Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HSD17B2	3294	broad.mit.edu	37	16	82131721	82131721	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:82131721G>T	ENST00000199936.4	+	5	1037	c.844G>T	c.(844-846)Gac>Tac	p.D282Y	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	282					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GCTGGAGAAGGACATTCTGGA	0.532000													48	18					2.68985e-26	4.14763e-26	1	1	0
MED16	10025	broad.mit.edu	37	19	871946	871946	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:871946A>G	ENST00000312090.6	-	12	2228	c.2078T>C	c.(2077-2079)cTc>cCc	p.L693P	MED16_ENST00000589119.1_Missense_Mutation_p.L693P|MED16_ENST00000395808.3_Missense_Mutation_p.L693P|MED16_ENST00000325464.1_Missense_Mutation_p.L693P|MED16_ENST00000269814.4_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	693					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTTGGTGAGCAGGCGGAA	0.697000													23	4					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98806781	98806781	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:98806781C>A	ENST00000266058.4	-	17	1921	c.1676G>T	c.(1675-1677)gGg>gTg	p.G559V	SLIT1_ENST00000371070.4_Missense_Mutation_p.G559V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	559					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTTAAACATCCCAGTGGCCTC	0.433000													7	24					1	1	1	1	0
CCDC63	160762	broad.mit.edu	37	12	111342479	111342479	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:111342479C>A	ENST00000308208.5	+	11	1672	c.1430C>A	c.(1429-1431)cCg>cAg	p.P477Q	CCDC63_ENST00000552694.1_Missense_Mutation_p.P398Q|CCDC63_ENST00000545036.1_Missense_Mutation_p.P437Q	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	477										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTGAGATCCCGCCACCCTTC	0.587000													59	18					3.37043e-27	5.24886e-27	1	1	0
GPR55	9290	broad.mit.edu	37	2	231775564	231775564	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:231775564G>A	ENST00000392040.1	-	2	306	c.114C>T	c.(112-114)aaC>aaT	p.N38N	GPR55_ENST00000392039.2_Silent_p.N38N	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	38					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TGGCCAGCAGGTTGAGGAGCA	0.552000													26	30					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392186	3392186	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:3392186C>T	ENST00000324266.5	+	2	987	c.792C>T	c.(790-792)gcC>gcT	p.A264A	TRAPPC12_ENST00000382110.2_Silent_p.A264A	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	264							binding										AACCCGTGGCCATGCGAGGGC	0.741000													19	13					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85218723	85218723	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:85218723A>T	ENST00000357749.2	-	5	678	c.649T>A	c.(649-651)Tac>Aac	p.Y217N	CHM_ENST00000537751.1_Missense_Mutation_p.Y69N|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	217					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATTTGTGAGTAAGTAATTCTG	0.343000													14	25					0	0	1	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661419	21661419	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:21661419G>T	ENST00000229314.5	+	3	329	c.220G>T	c.(220-222)Ggt>Tgt	p.G74C	GOLT1B_ENST00000535593.1_Intron|GOLT1B_ENST00000542038.1_Missense_Mutation_p.G10C|GOLT1B_ENST00000540141.1_Missense_Mutation_p.G74C	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	74	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						TTTTCTGGGTGGTGTATTTGT	0.343000													21	8					1.40151e-16	1.90031e-16	1	1	0
ATP6V0A4	50617	broad.mit.edu	37	7	138453921	138453921	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:138453921G>T	ENST00000310018.2	-	4	475	c.193C>A	c.(193-195)Ctc>Atc	p.L65I	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L65I|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L65I	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	65					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCTTACGGAGGATTCTCTCC	0.358000													29	36					9.04072e-19	1.26311e-18	1	1	0
L1CAM	3897	broad.mit.edu	37	X	153136581	153136581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:153136581C>A	ENST00000370060.1	-	6	643	c.454G>T	c.(454-456)Gag>Tag	p.E152*	L1CAM_ENST00000370055.1_Nonsense_Mutation_p.E147*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.E152*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.E152*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.E154*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.E154*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.E147*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	152	Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCACTGACTCCCCTTCCTCC	0.632000													20	12					7.41877e-09	8.78634e-09	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212248729	212248729	+	Missense_Mutation	SNP	G	G	T	rs142119532		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:212248729G>T	ENST00000342788.4	-	28	3848	c.3538C>A	c.(3538-3540)Ctt>Att	p.L1180I	ERBB4_ENST00000436443.1_Missense_Mutation_p.L1164I|ERBB4_ENST00000402597.1_Missense_Mutation_p.L1170I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1180					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AATGCTTGAAGGTCTCCATTT	0.423000										TSP Lung(8;0.080)			66	21					2.59843e-28	4.09148e-28	1	1	0
SCP2D1	140856	broad.mit.edu	37	20	18794767	18794767	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:18794767C>T	ENST00000377428.2	+	1	398	c.308C>T	c.(307-309)cCa>cTa	p.P103L	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		GCCAGGCTCCCAGCAGACACT	0.498000													17	10					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939013	2939013	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:2939013C>A	ENST00000378404.2	+	1	968	c.763C>A	c.(763-765)Ccg>Acg	p.P255T		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	255						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCTCGGGGACCCGCTGCACCA	0.662000													74	15					7.45626e-27	1.15542e-26	1	1	0
GNL1	2794	broad.mit.edu	37	6	30515040	30515040	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:30515040C>A	ENST00000376621.3	-	10	2260	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	430					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TAGGGTAGATCCCTGCCAGAA	0.597000													150	193					1.82871e-52	3.1987e-52	1	1	0
FGD5	152273	broad.mit.edu	37	3	14965551	14965551	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:14965551C>A	ENST00000285046.5	+	17	4084	c.3974C>A	c.(3973-3975)cCc>cAc	p.P1325H	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.P1084H|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1325					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTGTCTTCACCCCGCTTCTCG	0.552000													63	18					1.48873e-21	2.19791e-21	1	1	0
LILRB5	10990	broad.mit.edu	37	19	54756385	54756385	+	Missense_Mutation	SNP	G	G	T	rs138683047		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:54756385G>T	ENST00000450632.1	-	10	1552	c.1475C>A	c.(1474-1476)gCg>gAg	p.A492E	LILRB5_ENST00000449561.2_Missense_Mutation_p.A501E|LILRB5_ENST00000345866.6_Missense_Mutation_p.A401E|LILRB5_ENST00000316219.5_Missense_Mutation_p.A500E			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	500					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCTGGCCCCGCAGCCCCTGC	0.617000													68	20					2.69673e-31	4.35605e-31	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140432850	140432850	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140432850C>A	ENST00000306549.3	+	1	1872	c.1795C>A	c.(1795-1797)Cag>Aag	p.Q599K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		599	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACTCAGGTCAGAATTCTTG	0.478000													22	34					1.96292e-10	2.39538e-10	1	1	0
GPR15	2838	broad.mit.edu	37	3	98251875	98251875	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:98251875C>T	ENST00000284311.3	+	1	1133	c.998C>T	c.(997-999)tCa>tTa	p.S333L		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	333						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTGAGACATCAGATAGTCAC	0.473000													34	86					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284030	159284030	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:159284030C>A	ENST00000332217.5	-	1	419	c.420G>T	c.(418-420)agG>agT	p.R140S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGATACAGGCCCTCTTACCCA	0.517000													47	115					3.4345e-17	4.68123e-17	1	1	0
MLLT4	4301	broad.mit.edu	37	6	168271164	168271164	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:168271164G>T	ENST00000366806.2	+	3	542	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S	MLLT4_ENST00000344191.4_Missense_Mutation_p.A134S|MLLT4_ENST00000351017.4_Missense_Mutation_p.A134S|MLLT4_ENST00000447894.2_Missense_Mutation_p.A134S|MLLT4_ENST00000400822.3_Missense_Mutation_p.A134S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A134S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A134S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	134					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGAGAATGACGCCATTCCTCC	0.418000			T	MLL	AL								157	32					5.13163e-93	9.28808e-93	1	1	0
AK7	122481	broad.mit.edu	37	14	96944851	96944851	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:96944851G>A	ENST00000267584.4	+	15	1649	c.1605G>A	c.(1603-1605)gtG>gtA	p.V535V		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	535					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AGGAGCGTGTGATAAACCTTC	0.527000													53	17					0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203134501	203134501	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:203134501G>T	ENST00000367236.4	+	3	1375	c.454G>T	c.(454-456)Gtg>Ttg	p.V152L	ADORA1_ENST00000309502.3_Missense_Mutation_p.V152L|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.V152L|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	152					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCTGAGTGCGGTGGAGCGGGC	0.617000													17	36					7.07596e-05	7.6648e-05	1	1	0
PIP4K2A	5305	broad.mit.edu	37	10	22828900	22828900	+	Splice_Site	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:22828900G>A	ENST00000376573.4	-	9	1368	c.1140_splice	c.e9+1	p.G380_splice	PIP4K2A_ENST00000323883.7_Splice_Site_p.G240_splice|PIP4K2A_ENST00000545335.1_Splice_Site_p.G321_splice	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	380	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	p.G380G(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AGATACTCACGCCATGTTTAA	0.458000													105	121					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244438	100244438	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:100244438G>A	ENST00000160382.5	-	11	1059	c.953C>T	c.(952-954)aCc>aTc	p.T318I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	318					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					ACCCAACATGGTGTTCCCCGA	0.662000													25	29					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4553369	4553369	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:4553369A>C	ENST00000228837.2	-	2	423	c.380T>G	c.(379-381)gTg>gGg	p.V127G		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	127					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GAGACTCACCACGCCTCGCTC	0.542000													5	23					0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150719261	150719261	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:150719261G>A	ENST00000344419.3	+	5	898	c.758G>A	c.(757-759)cGc>cAc	p.R253H	IYD_ENST00000229447.5_Silent_p.P290P	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	253					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CTCCTGGGCCGCCCCGCACAT	0.562000													24	63					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982602	75982602	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:75982602C>A	ENST00000308508.5	-	3	896	c.804G>T	c.(802-804)caG>caT	p.Q268H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	268	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATACGGTACCCTGGCCCTTCT	0.627000													42	6					1.02591e-13	1.33206e-13	1	1	0
BRCA2	675	broad.mit.edu	37	13	32912408	32912408	+	Missense_Mutation	SNP	G	G	T	rs80358636		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:32912408G>T	ENST00000544455.1	+	11	4143	c.3916G>T	c.(3916-3918)Gtt>Ttt	p.V1306F	BRCA2_ENST00000380152.3_Missense_Mutation_p.V1306F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1306					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGGCACTTTTGTTGAAGAAAT	0.264000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			3	10					0.115264	0.116608	1	1	0
PNPO	55163	broad.mit.edu	37	17	46023995	46023995	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:46023995G>T	ENST00000225573.4	+	7	738	c.633G>T	c.(631-633)ctG>ctT	p.L211L	RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000544840.1_Silent_p.L193L|PNPO_ENST00000534893.1_Silent_p.L116L|PNPO_ENST00000434554.2_Silent_p.L168L	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	211					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	GCTATGTCCTGTACCCTCAGG	0.577000											OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	67					3.73988e-18	5.16507e-18	1	1	0
HECW1	23072	broad.mit.edu	37	7	43484556	43484556	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:43484556G>A	ENST00000395891.1	+	11	2390	c.1785G>A	c.(1783-1785)tcG>tcA	p.S595S	HECW1_ENST00000453890.1_Silent_p.S595S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	595					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGACTCCTCGGAGAAGGATG	0.697000													29	36					0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67228757	67228757	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:67228757C>G	ENST00000379378.3	+	6	741	c.682C>G	c.(682-684)Ctg>Gtg	p.L228V		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	228					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		ACCTCCACCTCTGCCCAAGCC	0.592000													39	60					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179528547	179528547	+	Splice_Site	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179528547T>G	ENST00000589042.1	-	170	36671	c.36448_splice	c.e170+1	p.K12149_splice	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10298	Ig-like 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAACTACCTTTAACAGGTG	0.413000													33	318					0	0	1	0	0
CRYBA2	1412	broad.mit.edu	37	2	219857787	219857787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:219857787C>A	ENST00000295728.2	-	1	348	c.112G>T	c.(112-114)Gag>Tag	p.E38*	CRYBA2_ENST00000392096.2_Nonsense_Mutation_p.E38*	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	38	Beta/gamma crystallin 'Greek key' 1.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCCGCGCTCGCAGACGTTC	0.721000													24	33					7.41945e-09	8.78634e-09	1	1	0
KRT6C	286887	broad.mit.edu	37	12	52867405	52867405	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:52867405G>T	ENST00000252250.6	-	1	164	c.117C>A	c.(115-117)tcC>tcA	p.S39S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	39	Head.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCCTGGAGCGGGACACGGAGA	0.657000													63	13					3.27973e-32	5.33083e-32	1	1	0
HINFP	25988	broad.mit.edu	37	11	118997796	118997796	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:118997796G>A	ENST00000350777.2	+	2	205	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	HINFP_ENST00000527410.1_Missense_Mutation_p.G48R|HINFP_ENST00000527354.1_Intron	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	48					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCATGGCTCTGGggaggagga	0.537000													20	52					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135485475	135485475	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:135485475C>A	ENST00000394143.1	+	22	8939	c.8648C>A	c.(8647-8649)aCt>aAt	p.T2883N	GPR112_ENST00000370652.1_Missense_Mutation_p.T2883N|GPR112_ENST00000287534.4_Missense_Mutation_p.T2636N|GPR112_ENST00000412101.1_Missense_Mutation_p.T2678N|GPR112_ENST00000394141.1_Missense_Mutation_p.T2678N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2883					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCCCAACAACTCCGTTGTAA	0.498000													15	7					2.31682e-05	2.52891e-05	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124311319	124311319	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:124311319C>G	ENST00000409039.3	+	24	3936	c.3911C>G	c.(3910-3912)gCt>gGt	p.A1304G		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1304	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTCTCAGGGCTCTCAGAAAG	0.458000													32	68					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	874454	874454	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:874454C>A	ENST00000342066.3	+	6	548	c.465C>A	c.(463-465)ccC>ccA	p.P155P		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	155						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCCGCTCCCCCCGTATCAGCA	0.632000													9	16					4.68919e-08	5.47832e-08	1	1	0
HECW1	23072	broad.mit.edu	37	7	43484813	43484813	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:43484813C>T	ENST00000395891.1	+	11	2647	c.2042C>T	c.(2041-2043)tCg>tTg	p.S681L	HECW1_ENST00000453890.1_Missense_Mutation_p.S681L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	681	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCAGCCCCTCGTGCTACAGC	0.672000													42	65					0	0	1	0	0
GPER1	2852	broad.mit.edu	37	7	1132477	1132477	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:1132477C>T	ENST00000397092.1	+	3	1997	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	C7orf50_ENST00000357429.6_Intron|GPER_ENST00000401670.1_Silent_p.F371F|GPER_ENST00000397088.3_Silent_p.F371F|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000297469.3_Silent_p.F371F	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		371						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		ATGTGAGGTTCAGCAGTGCCG	0.597000													8	32					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227599	28227599	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:28227599A>C	ENST00000343684.3	+	1	502	c.450A>C	c.(448-450)gaA>gaC	p.E150D		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	150										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						ATTCTGACGAACATACCCCAG	0.502000													112	138					0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305862	39305862	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:39305862G>T	ENST00000343246.4	-	1	192	c.158C>A	c.(157-159)cCc>cAc	p.P53H		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	53	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcagcagGTGGGCTGGTAGCA	0.677000													18	46					9.16793e-09	1.08405e-08	1	1	0
FAM189B	10712	broad.mit.edu	37	1	155217714	155217714	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:155217714T>A	ENST00000361361.2	-	12	2375	c.1866A>T	c.(1864-1866)cgA>cgT	p.R622R	FAM189B_ENST00000350210.2_Silent_p.R526R|FAM189B_ENST00000368368.3_Silent_p.R604R	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	622						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGAGGCTCTCTCGGCCAGGCC	0.632000													22	28					0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4585491	4585491	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:4585491A>C	ENST00000262352.3	+	12	1744	c.1508A>C	c.(1507-1509)tAt>tCt	p.Y503S		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	503					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	AAGAAGTCTTATGTCAATGGA	0.473000													66	9					0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086640	46086640	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:46086640C>A	ENST00000360770.3	-	1	204	c.164G>T	c.(163-165)tGc>tTc	p.C55F	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	55	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CACGGGCAGGCACACGGCTGG	0.627000													39	60					2.52637e-11	3.13439e-11	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189060940	189060940	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:189060940C>G	ENST00000332517.3	+	1	368	c.228C>G	c.(226-228)agC>agG	p.S76R		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	76					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGCTGGCCAGCATCGCCAGGC	0.627000													82	17					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16723376	16723376	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:16723376C>A	ENST00000417510.1	-	0	743																											TTGATGTCGGCCCCCACACTC	0.562000													49	128					2.43139e-17	3.31979e-17	1	1	0
VIPR2	7434	broad.mit.edu	37	7	158824740	158824740	+	Silent	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:158824740C>G	ENST00000262178.2	-	11	1175	c.990G>C	c.(988-990)acG>acC	p.T330T	VIPR2_ENST00000377633.3_Silent_p.T314T|VIPR2_ENST00000402066.1_Silent_p.T471T	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	330					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TAAGCAGGAGCGTGGACTTGG	0.592000													14	57					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212747	60212747	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:60212747T>C	ENST00000267484.5	-	2	1029	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	232					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCTTCAGGTTTAATTGAGATG	0.438000													56	105					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312585	25312585	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:25312585C>G	ENST00000524413.1	+	3	780	c.433C>G	c.(433-435)Ctg>Gtg	p.L145V	THNSL1_ENST00000376356.4_Missense_Mutation_p.L145V			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	145					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CATGTGGCATCTGAAGAAAAA	0.378000													19	72					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202407004	202407004	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:202407004C>T	ENST00000406302.3	+	10	1463	c.1310C>T	c.(1309-1311)tCa>tTa	p.S437L	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S437L|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.S437L|PPP1R12B_ENST00000356764.2_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	437					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTCCTTCTTCATGGAGATTG	0.443000													20	70					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208811222	208811222	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:208811222T>A	ENST00000457206.1	-	4	1988	c.1561A>T	c.(1561-1563)Ata>Tta	p.I521L	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.I521L|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.I521L			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	521					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAAGACCTATGGATCGCTGG	0.453000													80	30					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299249	125299249	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:125299249C>A	ENST00000538699.1	-	2	739	c.659G>T	c.(658-660)tGg>tTg	p.W220L	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.W220L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	220										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTCCATCCGCCACAGAGCCAC	0.632000													17	49					6.94344e-10	8.38798e-10	1	1	0
LOC645166	645166	broad.mit.edu	37	1	148932887	148932887	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:148932887G>T	ENST00000539543.1	+	0	143					NR_027355.1																						GTGAGGTACAGGCTCAGTCTG	0.637000													26	295					4.2108e-06	4.69135e-06	1	1	0
DGKI	9162	broad.mit.edu	37	7	137330266	137330266	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:137330266G>C	ENST00000424189.2	-	6	985	c.756C>G	c.(754-756)caC>caG	p.H252Q	DGKI_ENST00000288490.5_Missense_Mutation_p.H252Q|DGKI_ENST00000446122.1_Missense_Mutation_p.H252Q|DGKI_ENST00000453654.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	252					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGTGCACCCAGTGATGACGTA	0.483000													15	30					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33955908	33955908	+	Silent	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:33955908C>G	ENST00000389232.4	+	36	5659	c.5589C>G	c.(5587-5589)acC>acG	p.T1863T	RYR3_ENST00000415757.3_Silent_p.T1863T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1863	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCGGAAGACCAAGGAGTTCC	0.552000													4	7					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166903433	166903433	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:166903433G>A	ENST00000423058.2	-	9	1241	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	SCN1A_ENST00000375405.3_Silent_p.F408F|SCN1A_ENST00000303395.4_Silent_p.F408F|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F408F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	408						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATGAGCCCAAGAAAATGACCA	0.393000													8	152					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41151219	41151219	+	Silent	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:41151219T>C	ENST00000380588.4	+	5	1024	c.921T>C	c.(919-921)tgT>tgC	p.C307C	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	307	Cys-rich.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				gtttctgctgTAGAAGAAAAA	0.433000													25	21					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444803	78444803	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:78444803C>A	ENST00000397909.2	+	11	2565	c.2392C>A	c.(2392-2394)Cag>Aag	p.Q798K	NAV3_ENST00000266692.7_Missense_Mutation_p.Q798K|NAV3_ENST00000228327.6_Missense_Mutation_p.Q798K|NAV3_ENST00000536525.2_Missense_Mutation_p.Q798K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	798						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAACATGTCACAGATTGACAT	0.502000										HNSCC(70;0.22)			22	10					6.44725e-10	7.79459e-10	1	1	0
ISM1	140862	broad.mit.edu	37	20	13251266	13251266	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:13251266G>T	ENST00000262487.3	+	2	260	c.254G>T	c.(253-255)cGa>cTa	p.R85L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	85						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCCAGACCGCGATTCCGACAA	0.507000													87	26					3.76287e-55	6.64136e-55	1	1	0
NALCN	259232	broad.mit.edu	37	13	101881929	101881929	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:101881929G>T	ENST00000251127.6	-	13	1522	c.1441C>A	c.(1441-1443)Cga>Aga	p.R481R	NALCN_ENST00000376196.3_Silent_p.R481R|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	481						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGAACTACTCGGAGAACCTAT	0.318000													33	66					4.34311e-12	5.4621e-12	1	1	0
ADRA1D	146	broad.mit.edu	37	20	4228734	4228734	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:4228734C>A	ENST00000379453.4	-	1	987	c.871G>T	c.(871-873)Ggc>Tgc	p.G291C		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	291					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CGCTTGACGCCCGCCTCGAGG	0.721000													2	1					1	1	1	1	0
ASPG	374569	broad.mit.edu	37	14	104571736	104571736	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:104571736C>A	ENST00000551177.1	+	10	1214	c.1122C>A	c.(1120-1122)ggC>ggA	p.G374G	ASPG_ENST00000546892.2_Silent_p.G374G|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Silent_p.G374G	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	374					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CACTGCAGGGCAACACGCTGG	0.667000													15	8					6.31663e-08	7.36861e-08	1	1	0
MSH4	4438	broad.mit.edu	37	1	76345770	76345770	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:76345770A>G	ENST00000263187.3	+	13	1817	c.1713A>G	c.(1711-1713)tcA>tcG	p.S571S		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	571					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GCTTTACATCAGCAGATTTAA	0.269000								Mismatch excision repair (MMR)					12	6					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193446	28193446	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:28193446T>A	ENST00000302326.4	-	1	4040	c.3086A>T	c.(3085-3087)gAc>gTc	p.D1029V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1029							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGCCCCGCCGTCCAGGGACCC	0.662000			T	ETV6	"""AML, meningioma"""								8	118					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68716914	68716914	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:68716914G>A	ENST00000303145.7	-	5	826	c.740C>T	c.(739-741)cCa>cTa	p.P247L	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000411698.2_Missense_Mutation_p.P202L	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	247						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TCTTAATTTTGGTTCTTTCAC	0.343000													33	8					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965353	88965353	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:88965353C>A	ENST00000333190.4	+	4	3666	c.3057C>A	c.(3055-3057)gaC>gaA	p.D1019E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1019						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTTAGCAGACACTGATTGTG	0.348000										HNSCC(36;0.09)			18	30					8.34094e-07	9.42049e-07	1	1	0
EVX2	344191	broad.mit.edu	37	2	176947025	176947025	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:176947025C>A	ENST00000308618.4	-	2	716	c.580G>T	c.(580-582)Gcg>Tcg	p.A194S		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGGGTGAACGCCGTACGGTAG	0.711000													13	21					9.31168e-06	1.03155e-05	1	1	0
FOXD4	2298	broad.mit.edu	37	9	117903	117903	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:117903C>G	ENST00000382500.2	-	1	514	c.217G>C	c.(217-219)Ggc>Cgc	p.G73R		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	73					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGCCGCCGCCGCCCTCGATG	0.726000													36	191					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166866286	166866286	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:166866286G>A	ENST00000423058.2	-	20	3962	c.3945C>T	c.(3943-3945)ctC>ctT	p.L1315L	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.L1304L|SCN1A_ENST00000303395.4_Silent_p.L1315L|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L1287L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1315						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTAGTGTCCTGAGAGATTTGA	0.378000													22	71					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86801239	86801239	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:86801239G>A	ENST00000441037.2	+	8	903	c.808G>A	c.(808-810)Gat>Aat	p.D270N	AGBL1_ENST00000421325.2_Missense_Mutation_p.D270N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	270	Asp-rich.				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAAAGACTCTGATACTGAAGA	0.428000													39	102					0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35260490	35260490	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:35260490A>G	ENST00000373953.3	+	10	1357	c.1091A>G	c.(1090-1092)aAg>aGg	p.K364R	ZNF76_ENST00000339411.5_Missense_Mutation_p.K364R|ZNF76_ENST00000440666.2_Missense_Mutation_p.K338R	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	364					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCCATGCACAAGCGCAGTGCC	0.622000													21	33					0	0	1	0	0
TMEM18	129787	broad.mit.edu	37	2	669585	669585	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:669585C>A	ENST00000281017.3	-	5	511	c.418G>T	c.(418-420)Gac>Tac	p.D140Y	TMEM18_ENST00000405941.3_Missense_Mutation_p.D143Y|TMEM18_ENST00000355654.2_Missense_Mutation_p.D127Y	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	140					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GCCCCTCAGTCttctttcctt	0.512000													6	46					0.0215528	0.0219892	1	1	0
TSHB	7252	broad.mit.edu	37	1	115576671	115576671	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:115576671G>T	ENST00000256592.1	+	3	308	c.240G>T	c.(238-240)agG>agT	p.R80S	TSHB_ENST00000369517.1_Missense_Mutation_p.R80S	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	80					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCATCTACAGGACTGTAGAAA	0.423000													48	113					2.65591e-33	4.3577e-33	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70681675	70681675	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:70681675G>T	ENST00000377844.4	-	1	916	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	53	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGGCGACTCTGGCTGGGTCCC	0.622000													26	58					3.73148e-12	4.69667e-12	1	1	0
OR14J1	442191	broad.mit.edu	37	6	29274582	29274582	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:29274582G>C	ENST00000377160.2	+	1	180	c.116G>C	c.(115-117)gGc>gCc	p.G39A		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GCCTTGACAGGCAACCTCCTC	0.453000													4	158					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40387970	40387970	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:40387970A>T	ENST00000406785.1	-	6	2285	c.2096T>A	c.(2095-2097)cTg>cAg	p.L699Q	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.L699Q|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.L730Q|SLC8A1_ENST00000403092.1_Missense_Mutation_p.L735Q|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.L699Q|SLC8A1_ENST00000405269.1_Missense_Mutation_p.L699Q|SLC8A1_ENST00000405901.3_Missense_Mutation_p.L730Q|SLC8A1_ENST00000332839.4_Missense_Mutation_p.L735Q|SLC8A1_ENST00000406391.2_Missense_Mutation_p.L699Q|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.L727Q			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	735					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CACAAGGGCCAGGTTTGTCTT	0.403000													39	67					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9011664	9011664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:9011664G>T	ENST00000319474.2	+	3	466	c.442G>T	c.(442-444)Gag>Tag	p.E148*	CA6_ENST00000377442.2_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI	27				S -> T (in Ref. 1; AAA51892 and 2; AAF22565).	one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCCAGAAGAGGGAAGGCA	0.577000													26	2					4.87955e-14	6.38347e-14	1	1	0
DBI	1622	broad.mit.edu	37	2	120125090	120125090	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:120125090G>A	ENST00000542275.1	+	1	262	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	DBI_ENST00000460901.1_Intron|DBI_ENST00000409094.1_Intron|DBI_ENST00000311521.4_Intron|DBI_ENST00000535757.1_Intron|DBI_ENST00000535617.1_Missense_Mutation_p.A41T|DBI_ENST00000355857.3_Intron	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	0	ACB.				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						GAGGAGAATCGCGGCCCGGGG	0.682000													15	55					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100331978	100331978	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:100331978C>T	ENST00000262233.6	+	3	517	c.378C>T	c.(376-378)acC>acT	p.T126T	EML1_ENST00000556758.1_3'UTR|EML1_ENST00000327921.9_Silent_p.T95T|EML1_ENST00000334192.4_Silent_p.T126T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	126						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCCAGCAACCAAAAGGTGAG	0.438000													30	3					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42163520	42163520	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:42163520A>T	ENST00000444063.1	+	13	1625	c.1493A>T	c.(1492-1494)cAc>cTc	p.H498L	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.H566L|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.H566L|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.H498L|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.H498L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	498					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GACGCTGACCACCCAGACATC	0.572000													12	6					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765034	77765034	+	Silent	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:77765034T>C	ENST00000521891.2	+	10	6325	c.5877T>C	c.(5875-5877)ctT>ctC	p.L1959L	ZFHX4_ENST00000518282.1_Silent_p.L1933L|ZFHX4_ENST00000050961.6_Silent_p.L1914L|ZFHX4_ENST00000455469.2_Silent_p.L1914L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1914	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAATGTTCTTATTTTAAAGA	0.393000										HNSCC(33;0.089)			28	66					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50463984	50463984	+	Silent	SNP	G	G	A	rs147580960		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:50463984G>A	ENST00000404971.1	-	19	4948	c.3609C>T	c.(3607-3609)gcC>gcT	p.A1203A	NRXN1_ENST00000401669.2_Silent_p.A1163A|NRXN1_ENST00000402717.3_Silent_p.A1155A|NRXN1_ENST00000406859.3_Silent_p.A1163A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.A1163A|NRXN1_ENST00000401710.1_Silent_p.A181A|NRXN1_ENST00000405472.3_Silent_p.A1155A|NRXN1_ENST00000342183.5_Silent_p.A128A	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1163	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCACCAATACGGCTTCTTTCT	0.443000													54	61					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216144088	216144088	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:216144088T>C	ENST00000366943.2	-	36	7222	c.6836A>G	c.(6835-6837)gAt>gGt	p.D2279G	USH2A_ENST00000307340.3_Missense_Mutation_p.D2279G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2279	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAATATACCATCTAGATATAA	0.398000										HNSCC(13;0.011)			21	47					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66713189	66713189	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:66713189C>A	ENST00000423207.2	+	2	768	c.283C>A	c.(283-285)Ccc>Acc	p.P95T	PDE4B_ENST00000329654.4_Missense_Mutation_p.P110T|PDE4B_ENST00000371049.3_Missense_Mutation_p.P110T	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	110					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TCCACTGGATCCCCAGGCCAG	0.537000													142	54					5.86415e-86	1.05771e-85	1	1	0
NELL1	4745	broad.mit.edu	37	11	21596522	21596522	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:21596522G>A	ENST00000298925.5	+	21	2624	c.2471G>A	c.(2470-2472)gGa>gAa	p.G824E	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.G749E|NELL1_ENST00000357134.5_Missense_Mutation_p.G796E|NELL1_ENST00000325319.5_Missense_Mutation_p.G739E			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	796					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTACAGAATGGAAGAGTCTGT	0.358000													11	20					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221055671	221055671	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:221055671T>C	ENST00000366903.6	+	3	2439	c.938T>C	c.(937-939)cTg>cCg	p.L313P	HLX_ENST00000549319.1_Missense_Mutation_p.L99P	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	313					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCGGCGATGCTGGGCCTCACG	0.632000													36	5					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123976335	123976335	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:123976335C>T	ENST00000369005.1	+	11	7878	c.7538C>T	c.(7537-7539)cCc>cTc	p.P2513L	TACC2_ENST00000358010.1_Missense_Mutation_p.P659L|TACC2_ENST00000368999.1_Missense_Mutation_p.P603L|TACC2_ENST00000360561.3_Missense_Mutation_p.P591L|TACC2_ENST00000369001.1_Missense_Mutation_p.P217L|TACC2_ENST00000515603.1_Missense_Mutation_p.P2468L|TACC2_ENST00000515273.1_Missense_Mutation_p.P2517L|TACC2_ENST00000513429.1_Missense_Mutation_p.P659L|TACC2_ENST00000369000.1_Missense_Mutation_p.P213L|TACC2_ENST00000334433.3_Missense_Mutation_p.P2513L|TACC2_ENST00000369004.3_Missense_Mutation_p.P603L|TACC2_ENST00000453444.2_Missense_Mutation_p.P2517L|TACC2_ENST00000260733.3_Missense_Mutation_p.P591L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2513						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTCAGTTCACCCACTGAGGGT	0.562000													26	73					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33482447	33482447	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:33482447T>C	ENST00000404816.2	+	12	2617	c.2264T>C	c.(2263-2265)gTa>gCa	p.V755A	LTBP1_ENST00000354476.3_Missense_Mutation_p.V755A|LTBP1_ENST00000407925.1_Missense_Mutation_p.V429A|LTBP1_ENST00000390003.4_Missense_Mutation_p.V429A|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000418533.2_Missense_Mutation_p.V429A|LTBP1_ENST00000404525.1_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	755					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAAGGACCTGTATTTGTCAAG	0.502000													29	107					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262578	158262578	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158262578T>A	ENST00000368170.3	+	4	1082	c.803T>A	c.(802-804)cTg>cAg	p.L268Q		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	268	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGGTGATCCTGGAGGTGGCA	0.522000													55	164					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23235152	23235152	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:23235152C>A	ENST00000298032.5	+	3	212	c.128C>A	c.(127-129)gCt>gAt	p.A43D	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.A43D|ARMC3_ENST00000409983.3_Missense_Mutation_p.A43D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	43							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAATTTTGGCTAAAGCATGT	0.303000													24	56					1.04121e-07	1.2083e-07	1	1	0
FAM167B	84734	broad.mit.edu	37	1	32714005	32714005	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:32714005G>C	ENST00000373582.3	+	2	484	c.295G>C	c.(295-297)Ggg>Cgg	p.G99R		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	99										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						GCAGCTGGCAGGGCAGCTGCT	0.697000											OREG0013330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	24					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041106	107041106	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:107041106A>G	ENST00000409886.3	-	20	3404	c.3317T>C	c.(3316-3318)cTa>cCa	p.L1106P	RGPD3_ENST00000304514.7_Missense_Mutation_p.L1106P	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1106	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ACACACTTTTAGTACTTGTTC	0.423000													91	605					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419858	56419858	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:56419858G>A	ENST00000407595.2	+	2	1025	c.523G>A	c.(523-525)Gag>Aag	p.E175K	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	175										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACTAGATGAGGAGAAGGGTGC	0.602000													48	83					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530523	5530523	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:5530523A>T	ENST00000311659.4	-	2	413	c.266T>A	c.(265-267)cTg>cAg	p.L89Q	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	89	Ubiquitin-like.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGATGACCAGGTGGACAGT	0.587000													24	35					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215342567	215342567	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:215342567A>T	ENST00000444842.2	+	4	651	c.501A>T	c.(499-501)acA>acT	p.T167T	KCNK2_ENST00000391895.2_Silent_p.T163T|KCNK2_ENST00000391894.2_Silent_p.T152T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	167							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CACCACGCACAGAAGGCGGCA	0.363000													41	48					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49771988	49771988	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:49771988C>G	ENST00000492622.2	+	21	2773	c.2468C>G	c.(2467-2469)aCt>aGt	p.T823S	FNDC3A_ENST00000541916.1_Missense_Mutation_p.T823S|FNDC3A_ENST00000398316.3_Missense_Mutation_p.T767S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	823	Fibronectin type-III 6.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TCACCAGCAACTACCTATTAT	0.403000													16	56					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113256755	113256755	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:113256755C>A	ENST00000297405.5	-	65	10514	c.10270G>T	c.(10270-10272)Ggg>Tgg	p.G3424W	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3384W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3255W|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3354W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3424	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTCCATCCCTACGACATTT	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			43	71					3.4345e-17	4.68123e-17	1	1	0
SIX3	6496	broad.mit.edu	37	2	45169254	45169254	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:45169254G>A	ENST00000260653.3	+	1	353	c.11G>A	c.(10-12)cGc>cAc	p.R4H		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	4					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGGTATTCCGCTCCCCCCTA	0.582000													43	138					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56470719	56470719	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:56470719C>G	ENST00000370754.5	-	39	8607	c.8608G>C	c.(8608-8610)Gct>Cct	p.A2870P	DST_ENST00000361203.3_Missense_Mutation_p.A2692P|DST_ENST00000370769.4_Missense_Mutation_p.A2692P|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.A2366P|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.A2692P			Q03001	DYST_HUMAN	dystonin	2692					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTTTCCAGCAATCTCAGTT	0.363000													45	34					0	0	1	0	0
SLC25A34	284723	broad.mit.edu	37	1	16065193	16065193	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:16065193A>G	ENST00000294454.5	+	4	783	c.702A>G	c.(700-702)ctA>ctG	p.L234L	SLC25A34_ENST00000489568.1_3'UTR	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	234					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACGCGGCTATACAATCAGC	0.637000													15	27					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30671008	30671008	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:30671008C>A	ENST00000376406.3	-	12	6385	c.5738G>T	c.(5737-5739)gGg>gTg	p.G1913V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.G1649V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1913	BRCT 1.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CAGACTTCCCCCCAGTGCCAG	0.637000								Other conserved DNA damage response genes					37	37					6.29468e-14	8.22786e-14	1	1	0
ATP7A	538	broad.mit.edu	37	X	77270248	77270248	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:77270248C>A	ENST00000341514.6	+	11	2651	c.2496C>A	c.(2494-2496)ctC>ctA	p.L832L	ATP7A_ENST00000343533.5_Silent_p.L754L|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	832					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATATCCTCCTCAGGTATTTAT	0.308000													60	69					5.82218e-30	9.29882e-30	1	1	0
LGALS12	85329	broad.mit.edu	37	11	63276101	63276101	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:63276101T>C	ENST00000415491.2	+	1	643	c.29T>C	c.(28-30)cTa>cCa	p.L10P	LGALS12_ENST00000255684.5_Missense_Mutation_p.L71P|LGALS12_ENST00000394618.3_Missense_Mutation_p.L71P|LGALS12_ENST00000425950.2_Missense_Mutation_p.L10P|LGALS12_ENST00000340246.5_Missense_Mutation_p.L71P	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	71					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GTGGTCCCTCTAGATGCACAC	0.572000													26	22					0	0	1	0	0
IGLV1-44	28823	broad.mit.edu	37	22	22735420	22735420	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:22735420C>A	ENST00000390297.2	+	0	171																											GGTCCTGGGCCCAGTCTGTGC	0.577000													23	72					8.88839e-20	1.26907e-19	1	1	0
DNAJC6	9829	broad.mit.edu	37	1	65858466	65858466	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:65858466T>A	ENST00000395325.3	+	12	1807	c.1650T>A	c.(1648-1650)ccT>ccA	p.P550P	DNAJC6_ENST00000263441.7_Silent_p.P537P|DNAJC6_ENST00000371069.4_Silent_p.P607P	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	550	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TGTTTCATCCTAGTGGACCTG	0.547000													31	5					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	433929	433929	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:433929A>T	ENST00000432829.2	+	38	4952	c.4636A>T	c.(4636-4638)Agg>Tgg	p.R1546W	DOCK8_ENST00000469391.1_Missense_Mutation_p.R1514W|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1614W|DOCK8_ENST00000382329.1_Missense_Mutation_p.R1081W	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1614	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTGAAAATGAGGGAATTTCA	0.418000													75	22					0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64410430	64410430	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:64410430C>A	ENST00000353874.4	+	3	422	c.386C>A	c.(385-387)cCa>cAa	p.P129Q	SNX1_ENST00000559844.1_Missense_Mutation_p.P129Q|SNX1_ENST00000561026.1_Intron|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000261889.5_Missense_Mutation_p.P129Q			Q13596	SNX1_HUMAN	sorting nexin 1	129					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGCCCCAGCCAACCTATGAG	0.458000													60	16					4.29146e-36	7.2078e-36	1	1	0
ANO3	63982	broad.mit.edu	37	11	26619968	26619968	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:26619968G>A	ENST00000256737.3	+	15	2356	c.1504G>A	c.(1504-1506)Gac>Aac	p.D502N	ANO3_ENST00000531568.1_Missense_Mutation_p.D356N|ANO3_ENST00000525139.1_Missense_Mutation_p.D486N|ANO3_ENST00000537978.1_Missense_Mutation_p.D486N	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	502						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTATACTTGGGACCTTATCGA	0.378000													44	65					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28906937	28906937	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:28906937A>T	ENST00000257192.4	+	3	397	c.185A>T	c.(184-186)gAa>gTa	p.E62V		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	62	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CGTGAAGGTGAAGACAACTCA	0.403000													36	73					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49061270	49061270	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:49061270T>A	ENST00000380950.2	-	14	1978	c.1791A>T	c.(1789-1791)acA>acT	p.T597T	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Silent_p.T597T|CEP152_ENST00000325747.5_Silent_p.T504T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	597					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGAGGTATCTGTTTTAGTCT	0.284000													11	7					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287423	16287423	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:16287423C>A	ENST00000343518.6	-	1	514	c.463G>T	c.(463-465)Ggc>Tgc	p.G155C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	155										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCCCAAGGGCCCACTTTGTTC	0.592000													59	93					3.84483e-29	6.0909e-29	1	1	0
LRRCC1	85444	broad.mit.edu	37	8	86022348	86022348	+	Splice_Site	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:86022348A>T	ENST00000414626.2	+	2	1139		c.e2-1		LRRCC1_ENST00000360375.3_Splice_Site			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						cell division|mitosis	centriole|nucleus		p.?(4)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ttttttttttaGGACTTGAAG	0.244000													3	22					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248113037	248113037	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:248113037A>T	ENST00000357191.3	+	1	878	c.878A>T	c.(877-879)aAc>aTc	p.N293I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGCCTGAGGAACAAGGAGGTG	0.507000													15	24					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34033207	34033207	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:34033207G>T	ENST00000373381.4	-	53	8542	c.8366C>A	c.(8365-8367)aCc>aAc	p.T2789N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2766	Sushi 19.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGAAAGGGGTCTTGCCCGA	0.527000													9	35					2.17888e-05	2.38e-05	1	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140731825	140731825	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140731825G>A	ENST00000523390.1	+	1	1998	c.1998G>A	c.(1996-1998)gaG>gaA	p.E666E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCAAGAGGTATTGCCAG	0.632000													67	90					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65114558	65114558	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:65114558G>C	ENST00000268043.4	-	4	818	c.724C>G	c.(724-726)Ctg>Gtg	p.L242V	PIF1_ENST00000559239.1_Missense_Mutation_p.L242V|PIF1_ENST00000333425.6_Missense_Mutation_p.L242V			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	242	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						AGTGAGCCCAGGATTCGCTTT	0.602000													11	56					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117992973	117992973	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:117992973C>A	ENST00000425217.1	-	9	1486		c.e9+1		KSR2_ENST00000339824.5_Splice_Site|KSR2_ENST00000302438.5_Splice_Site|KSR2_ENST00000545002.1_Splice_Site	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2						intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCAGCCTTACCTTGTTGATT	0.582000													22	3					2.39556e-15	3.19e-15	1	1	0
ATP7A	538	broad.mit.edu	37	X	77275741	77275741	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:77275741G>T	ENST00000341514.6	+	13	2782	c.2626_splice	c.e13-1	p.G876_splice	ATP7A_ENST00000343533.5_Splice_Site_p.G798_splice|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	876			G -> E (in MNKD).|G -> R (in MNKD).		ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTCCATACAGGGGAGGCAATG	0.393000													39	35					2.95478e-19	4.1768e-19	1	1	0
PQLC3	130814	broad.mit.edu	37	2	11304381	11304381	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:11304381G>T	ENST00000295083.3	+	4	523	c.348G>T	c.(346-348)ctG>ctT	p.L116L	PQLC3_ENST00000441908.2_Silent_p.L116L|PQLC3_ENST00000402361.1_Silent_p.L116L|PQLC3_ENST00000476787.1_Intron	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	116						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCATAGACCTGGCCATGGTAA	0.398000													13	57					0.000566183	0.000601618	1	1	0
KRT12	3859	broad.mit.edu	37	17	39023107	39023107	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:39023107C>T	ENST00000251643.4	-	1	355	c.332G>A	c.(331-333)gGt>gAt	p.G111D		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	111	Gly-rich.|Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CGAGAGAATACCTAGAGAGCC	0.522000													12	354					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40070007	40070007	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:40070007T>C	ENST00000336649.4	+	32	4841	c.4841T>C	c.(4840-4842)cTg>cCg	p.L1614P	CACNA1I_ENST00000404898.1_Missense_Mutation_p.L1573P|CACNA1I_ENST00000400164.3_Missense_Mutation_p.L1573P|CACNA1I_ENST00000402142.3_Missense_Mutation_p.L1608P|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L1608P|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L1573P			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1608					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ATGCGGGCCCTGCTGGACACG	0.647000													27	30					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111023	7111023	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:7111023C>A	ENST00000306904.5	+	1	859	c.672C>A	c.(670-672)gaC>gaA	p.D224E		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	224	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGAGCCGAGACTACCGCGAAC	0.706000													16	5					9.16793e-09	1.08405e-08	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103364267	103364267	+	Silent	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:103364267T>C	ENST00000358392.2	-	56	4556	c.4239A>G	c.(4237-4239)gcA>gcG	p.A1413A	COL11A1_ENST00000353414.4_Silent_p.A1362A|COL11A1_ENST00000370096.3_Silent_p.A1401A|COL11A1_ENST00000512756.1_Silent_p.A1285A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1401	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGCTTTCCTGCAGGTCCCT	0.468000													19	25					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530539	80530539	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:80530539T>A	ENST00000295057.3	-	2	1062	c.406A>T	c.(406-408)Atg>Ttg	p.M136L	LRRTM1_ENST00000409148.1_Missense_Mutation_p.M136L|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	136						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGTTGGGCATGGGCCGGAAG	0.627000										HNSCC(69;0.2)			49	138					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49167532	49167532	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:49167532T>C	ENST00000270235.4	-	4	933	c.838A>G	c.(838-840)Att>Gtt	p.I280V	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	280	Laminin EGF-like 3.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GTTGCCCCAATAGGGTGGCAC	0.632000													8	13					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148933357	148933357	+	RNA	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:148933357T>C	ENST00000539543.1	+	0	243					NR_027355.1																						CAAGACCTCATCAACAATTAA	0.453000													9	20					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27194632	27194632	+	Missense_Mutation	SNP	C	C	T	rs147555041	by1000genomes	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:27194632C>T	ENST00000242159.3	-	2	722	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	197	Poly-Ala.				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GGAGCTGCGGCGGCAGTCGGA	0.642000													148	128					0	0	1	0	0
CRIPT	9419	broad.mit.edu	37	2	46845965	46845965	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:46845965A>T	ENST00000238892.3	+	2	202	c.70A>T	c.(70-72)Agg>Tgg	p.R24W	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	24						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGATGGTGCTAGGAATACCAC	0.284000													16	96					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11904039	11904039	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:11904039G>T	ENST00000405977.1	+	5	1919	c.1294G>T	c.(1294-1296)Ggc>Tgc	p.G432C	BTBD3_ENST00000254977.3_Missense_Mutation_p.G371C|BTBD3_ENST00000378226.2_Missense_Mutation_p.G432C|BTBD3_ENST00000399006.2_Missense_Mutation_p.G371C			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	432										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TAAGCGGCAGGGCGTTGTCCT	0.498000													180	15					1.40307e-98	2.54836e-98	1	1	0
NBEAP1	606	broad.mit.edu	37	15	20876457	20876457	+	RNA	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:20876457T>A	ENST00000556948.1	-	0	143																											CAGGTGTATGTATCCAGATGG	0.328000													5	47					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42861483	42861483	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:42861483C>A	ENST00000398585.3	-	4	447	c.387G>T	c.(385-387)ggG>ggT	p.G129G	TMPRSS2_ENST00000458356.1_Silent_p.G92G|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Silent_p.G92G	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	92	LDL-receptor class A.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G92G(2)|p.G129G(1)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGAGGAAGGTCCCCAGGGTCA	0.557000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								34	54					1.08052e-11	1.34806e-11	1	1	0
NAV2	89797	broad.mit.edu	37	11	20070504	20070504	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:20070504C>T	ENST00000396085.1	+	15	4494	c.4133C>T	c.(4132-4134)cCt>cTt	p.P1378L	NAV2_ENST00000360655.4_Missense_Mutation_p.P1314L|NAV2_ENST00000311043.8_Missense_Mutation_p.P464L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1332L|NAV2_ENST00000349880.4_Missense_Mutation_p.P1378L|NAV2_ENST00000527559.2_Missense_Mutation_p.P1330L|NAV2_ENST00000396087.3_Missense_Mutation_p.P1401L|NAV2_ENST00000533917.1_Missense_Mutation_p.P464L|NAV2-AS2_ENST00000533767.1_RNA	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1401	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACTCGGCCCCTTCCAACAGC	0.627000													29	59					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127753498	127753498	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:127753498T>A	ENST00000368679.4	-	14	1804	c.1495A>T	c.(1495-1497)Agc>Tgc	p.S499C	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.S499C	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	499	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CAGTGAGGGCTGGCCCCTGTG	0.587000													5	18					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225042	158225042	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158225042G>T	ENST00000289429.5	+	2	760	c.227G>T	c.(226-228)aGc>aTc	p.S76I		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	76					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGAAACTTCAGCAATGAGGAG	0.478000													93	54					4.21487e-37	7.10208e-37	1	1	0
CORO1B	57175	broad.mit.edu	37	11	67209532	67209532	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:67209532T>A	ENST00000393893.1	-	4	332	c.229A>T	c.(229-231)Acg>Tcg	p.T77S	CORO1B_ENST00000453768.2_Missense_Mutation_p.T77S|CORO1B_ENST00000341356.5_Missense_Mutation_p.T77S|CORO1B_ENST00000545016.1_Missense_Mutation_p.T77S	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	77					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCACACACCGTCGGGTAGGCC	0.637000													17	52					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61160414	61160414	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:61160414C>T	ENST00000489441.1	+	5	748	c.653C>T	c.(652-654)cCa>cTa	p.P218L	SERPINB5_ENST00000382771.4_Intron|SERPINB5_ENST00000464346.1_Intron			P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	0					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AAATCCATTCCAATGAGGAAC	0.493000													11	17					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237384	30237384	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:30237384G>T	ENST00000378988.4	+	2	788	c.687G>T	c.(685-687)atG>atT	p.M229I		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	229	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TCCTGAATATGTTGGGAGTCT	0.483000													13	10					1.49906e-05	1.6478e-05	1	1	0
ARMC3	219681	broad.mit.edu	37	10	23235153	23235153	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:23235153T>A	ENST00000298032.5	+	3	213	c.129T>A	c.(127-129)gcT>gcA	p.A43A	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Silent_p.A43A|ARMC3_ENST00000409983.3_Silent_p.A43A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	43							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAATTTTGGCTAAAGCATGTG	0.303000													25	56					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133952677	133952677	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:133952677G>T	ENST00000361069.4	+	22	3866	c.3733G>T	c.(3733-3735)Gat>Tat	p.D1245Y	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1245	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGTTGGCGCAGATACAGCCCC	0.622000													4	78					0.150653	0.15182	1	1	0
ZNF622	90441	broad.mit.edu	37	5	16453173	16453173	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:16453173C>A	ENST00000308683.2	-	5	1381	c.1255G>T	c.(1255-1257)Gtg>Ttg	p.V419L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	419						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACTCGGCCCACGGCCTTCCGA	0.488000													96	41					1.46924e-35	2.45976e-35	1	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47606207	47606207	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:47606207A>G	ENST00000371917.4	+	20	2800	c.2800A>G	c.(2800-2802)Atc>Gtc	p.I934V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	934					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AATCGCCTGCATCTTTGGAAT	0.453000													50	16					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155511121	155511121	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:155511121G>A	ENST00000401878.3	+	9	1442	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	415	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCTGCCGTGGGACCCCAGAGA	0.478000													21	88					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172787	5172787	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:5172787G>T	ENST00000380367.1	-	2	1230	c.813C>A	c.(811-813)atC>atA	p.I271I	OR52A1_ENST00000328942.1_Silent_p.I271I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	271					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATAAGGGGAGATGTGAGACC	0.433000													31	53					8.16721e-17	1.11125e-16	1	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49658815	49658815	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:49658815T>C	ENST00000249601.4	-	9	1653	c.1357A>G	c.(1357-1359)Atc>Gtc	p.I453V	ARHGAP22_ENST00000374172.1_Missense_Mutation_p.I344V|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.I286V|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.I294V|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.I363V|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.I459V|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.I469V	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	453	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGGAGATGATGGGCACCTCC	0.677000													5	19					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	rs113946258		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592000													5	168					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53345113	53345113	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:53345113T>C	ENST00000595646.1	-	4	554	c.434A>G	c.(433-435)cAt>cGt	p.H145R	ZNF468_ENST00000396409.4_Missense_Mutation_p.H92R|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.H92R			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CAGATGCAAATGAAAGCTTGA	0.418000													136	43					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130980952	130980952	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:130980952C>A	ENST00000341179.7	+	3	419	c.327C>A	c.(325-327)acC>acA	p.T109T	DNM1_ENST00000486160.1_Silent_p.T109T|DNM1_ENST00000393594.3_Silent_p.T109T|DNM1_ENST00000372923.3_Silent_p.T109T|DNM1_ENST00000475805.1_Silent_p.T109T	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	109					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ACAGGGTCACCGGCACCAACA	0.592000													17	1					1.15088e-07	1.33062e-07	1	1	0
LINGO2	158038	broad.mit.edu	37	9	27950526	27950526	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:27950526C>A	ENST00000379992.2	-	6	593	c.144G>T	c.(142-144)ttG>ttT	p.L48F	LINGO2_ENST00000308675.3_Missense_Mutation_p.L48F	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	48	LRRNT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGATGGCGATCAATCGCCTTC	0.488000													70	17					7.577e-32	1.23028e-31	1	1	0
GRM7	2917	broad.mit.edu	37	3	7721771	7721771	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:7721771G>T	ENST00000486284.1	+	9	2761	c.2487G>T	c.(2485-2487)atG>atT	p.M829I	GRM7_ENST00000389336.4_Missense_Mutation_p.M829I|GRM7_ENST00000402647.2_Missense_Mutation_p.M829I|GRM7_ENST00000403881.1_Missense_Mutation_p.M829I|GRM7_ENST00000357716.4_Missense_Mutation_p.M829I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	829					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAATCTCCATGAACCTAAGTG	0.448000													26	42					7.4402e-23	1.11211e-22	1	1	0
IL2RB	3560	broad.mit.edu	37	22	37524873	37524873	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:37524873G>A	ENST00000216223.5	-	10	1117	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	307					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GAGGGGAAGGGCGAAGAGAGC	0.617000													40	17					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238303830	238303830	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:238303830C>A	ENST00000295550.4	-	3	561	c.109G>T	c.(109-111)Gct>Tct	p.A37S	COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.A37S|COL6A3_ENST00000346358.4_Missense_Mutation_p.A37S|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	37	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATATCAGCAGCCGCACCATTT	0.338000													14	6					0.146539	0.148152	1	1	0
OR9K2	441639	broad.mit.edu	37	12	55523945	55523945	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:55523945C>T	ENST00000305377.5	+	1	481	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TCTTTGCCCTCCTCATTGTGA	0.483000													37	45					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325523	152325523	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152325523G>C	ENST00000388718.5	-	3	4811	c.4739C>G	c.(4738-4740)aCt>aGt	p.T1580S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1580							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCACTGTCAGTGGACTCACT	0.507000													6	490					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40325209	40325209	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:40325209A>T	ENST00000455146.3	+	19	2003	c.1953A>T	c.(1951-1953)caA>caT	p.Q651H	COG6_ENST00000416691.1_Intron	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	651					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CGCCGCAGCAAGTGCAGACGC	0.378000													11	37					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56394361	56394361	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:56394361C>A	ENST00000370754.5	-	66	17386	c.17387G>T	c.(17386-17388)gGg>gTg	p.G5796V	DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Missense_Mutation_p.G5618V|DST_ENST00000421834.2_Missense_Mutation_p.G3530V|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.G5292V|DST_ENST00000244364.6_Missense_Mutation_p.G3204V|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5616					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCATCTTCCCCAAAAATCTT	0.443000													50	222					1.27334e-21	1.88169e-21	1	1	0
TWISTNB	221830	broad.mit.edu	37	7	19748385	19748385	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:19748385C>A	ENST00000222567.5	-	1	325		c.e1+1			NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor							microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GAGATCGGTACCTCTCAGAAT	0.547000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	74					2.67592e-24	4.06199e-24	1	1	0
C7orf60	154743	broad.mit.edu	37	7	112462368	112462368	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:112462368C>G	ENST00000297145.4	-	5	814	c.649G>C	c.(649-651)Gat>Cat	p.D217H		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	217										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TCTATAGCATCCTGTGCAAGC	0.388000													15	8					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96112121	96112121	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:96112121C>G	ENST00000371361.3	-	8	998	c.898G>C	c.(898-900)Ggc>Cgc	p.G300R	NOC3L_ENST00000543788.1_Missense_Mutation_p.G38R|NOC3L_ENST00000371350.1_Missense_Mutation_p.G300R|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	300						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CTAACCAGGCCTTCTTCAAAT	0.313000													10	31					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110813	175110813	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:175110813C>A	ENST00000231683.2	+	1	2350	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	HRH2_ENST00000377291.2_Missense_Mutation_p.L193I	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	193					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CACCTTCTACCTCCCGCTACT	0.547000													20	33					1.2644e-06	1.42409e-06	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79322334	79322334	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:79322334G>A	ENST00000428286.1	-	8	4979	c.3779C>T	c.(3778-3780)cCt>cTt	p.P1260L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P1619L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1619					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAAAAATGTAGGAGTTTTGCG	0.363000													8	29					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22056470	22056470	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:22056470C>A	ENST00000535894.1	+	0	300				PHEX_ENST00000537599.1_Intron|PHEX_ENST00000379374.4_Intron			P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked						biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTGGAATACCGTGTCAACAC	0.433000													27	20					7.16444e-05	7.75527e-05	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169482389	169482389	+	Splice_Site	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:169482389A>C	ENST00000256935.8	+	42	4374	c.4295_splice	c.e42+1	p.N1432_splice	DOCK2_ENST00000540750.1_Splice_Site_p.N493_splice|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.N924_splice	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1432	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGATTATAAAGTAAGACTC	0.493000													22	29					0	0	1	0	0
MOB1A	55233	broad.mit.edu	37	2	74399725	74399725	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:74399725T>A	ENST00000396049.3	-	2	362	c.169A>T	c.(169-171)Att>Ttt	p.I57F	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.I57F	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN	MOB kinase activator 1A	57					hippo signaling cascade		metal ion binding|protein binding										TTCACAGCAATCCATTCATTG	0.353000													56	43					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868267	58868267	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:58868267C>A	ENST00000311044.3	-	3	923	c.735G>T	c.(733-735)ccG>ccT	p.P245P	ZNF497_ENST00000425453.3_Silent_p.P245P|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GGCAGGCGTGCGGCCGCGCGC	0.692000													9	1					2.17888e-05	2.38e-05	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181695252	181695252	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:181695252G>T	ENST00000526775.1	+	18	2359	c.2194G>T	c.(2194-2196)Gcc>Tcc	p.A732S	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A732S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A732S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A339S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A683S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A683S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A732S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	732					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTGCAGAAGGCCAAGGAGGT	0.547000													7	9					0.307466	0.30885	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13758970	13758970	+	Silent	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:13758970G>C	ENST00000265104.4	-	61	10508	c.10404C>G	c.(10402-10404)gcC>gcG	p.A3468A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3468	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCAGTCATGGCCTGTTCAT	0.532000									Kartagener syndrome				51	209					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174870011	174870011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:174870011G>T	ENST00000393752.2	-	2	1084	c.92C>A	c.(91-93)tCg>tAg	p.S31*		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	31					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GATGAGCAGCGACAGGAAACA	0.567000													33	60					1.22384e-17	1.68277e-17	1	1	0
CA13	377677	broad.mit.edu	37	8	86193560	86193560	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:86193560G>T	ENST00000321764.3	+	7	1073	c.771G>T	c.(769-771)gtG>gtT	p.V257V		NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	257					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						GCCGCAAAGTGAGAGCCTCTT	0.493000													27	78					2.48779e-11	3.09144e-11	1	1	0
IPCEF1	26034	broad.mit.edu	37	6	154521139	154521139	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:154521139C>T	ENST00000265198.4	-	10	725	c.570G>A	c.(568-570)ctG>ctA	p.L190L	IPCEF1_ENST00000367220.4_Silent_p.L191L|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Silent_p.L191L|IPCEF1_ENST00000519091.1_5'UTR|IPCEF1_ENST00000519344.1_Silent_p.L162L	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ACGTTCCACTCAGGCTGGGTG	0.403000													27	35					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124464115	124464115	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:124464115C>A	ENST00000357628.3	-	19	2404	c.1806G>T	c.(1804-1806)tgG>tgT	p.W602C	POT1_ENST00000393329.1_Missense_Mutation_p.W471C	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	602					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AGCATTCCAACCACGGATATG	0.323000													5	3					0.184627	0.185697	1	1	0
LRP1B	53353	broad.mit.edu	37	2	140992361	140992361	+	Silent	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:140992361A>C	ENST00000389484.3	-	90	14624	c.13653T>G	c.(13651-13653)acT>acG	p.T4551T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4551					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		tcaccccagcagttagtggtc	0.438000										TSP Lung(27;0.18)			11	56					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134182780	134182780	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:134182780G>T	ENST00000431683.2	+	15	1499	c.1500_splice	c.e15+1	p.R500_splice		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	500					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCTGAACTCAGGGTATGTAAT	0.517000													6	3					0.00198382	0.00207273	1	1	0
MUC17	140453	broad.mit.edu	37	7	100695217	100695217	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:100695217G>T	ENST00000306151.4	+	9	13141	c.13077G>T	c.(13075-13077)caG>caT	p.Q4359H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4359						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAAGTGCCAGATGTCTCTAA	0.597000													115	34					2.20518e-70	3.95011e-70	1	1	0
ROBO4	54538	broad.mit.edu	37	11	124766982	124766982	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:124766982G>T	ENST00000306534.3	-	2	731	c.246C>A	c.(244-246)ctC>ctA	p.L82L	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	82	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CATCAGGCAGGAGGTGGTGTG	0.657000													16	33					2.94398e-08	3.44974e-08	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33624370	33624370	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:33624370A>T	ENST00000504830.1	-	14	2444	c.2109T>A	c.(2107-2109)acT>acA	p.T703T	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	703	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTCTCACAGTCTGGCAGG	0.488000										HNSCC(64;0.19)			14	74					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53044617	53044617	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:53044617G>T	ENST00000276480.7	-	22	3250	c.2567C>A	c.(2566-2568)tCc>tAc	p.S856Y		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	856						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGGAGAGGGAGGCTCCATT	0.512000													48	31					9.52127e-25	1.44953e-24	1	1	0
OR5B12	390191	broad.mit.edu	37	11	58207287	58207287	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:58207287A>T	ENST00000302572.2	-	1	359	c.338T>A	c.(337-339)cTg>cAg	p.L113Q		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATTGATGCCAGGAGGAAACT	0.448000													28	58					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112338435	112338435	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:112338435A>T	ENST00000361804.4	+	7	526	c.400A>T	c.(400-402)Aat>Tat	p.N134Y	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	134					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTCTCGAAGCAATCCTTATTA	0.303000													6	16					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79283492	79283492	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:79283492G>A	ENST00000442340.1	+	8	996	c.506G>A	c.(505-507)gGt>gAt	p.G169D	TBX22_ENST00000373291.1_Missense_Mutation_p.G169D|TBX22_ENST00000373294.5_Missense_Mutation_p.G289D|TBX22_ENST00000373296.3_Missense_Mutation_p.G289D	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	289					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTTTTAGGGGTGTATTGGAT	0.368000													16	27					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135263538	135263538	+	Missense_Mutation	SNP	A	A	G	rs142367048		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:135263538A>G	ENST00000285968.6	+	7	943	c.917A>G	c.(916-918)tAc>tGc	p.Y306C	NUP205_ENST00000440390.2_Missense_Mutation_p.Y100C	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	306					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAAAACAGTACATTGCAACA	0.443000													22	55					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324341	161324341	+	Silent	SNP	G	G	T	rs74873701		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:161324341G>T	ENST00000428797.2	+	11	1639	c.1284G>T	c.(1282-1284)ccG>ccT	p.P428P	GABRA1_ENST00000023897.6_Silent_p.P428P|GABRA1_ENST00000393943.4_Silent_p.P428P|GABRA1_ENST00000437025.2_Silent_p.P428P|GABRA1_ENST00000444819.1_Silent_p.P428P|GABRA1_ENST00000420560.1_Silent_p.P428P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	428					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TAGCCTTCCCGCTGCTATTTG	0.428000													43	78					1.15505e-17	1.58959e-17	1	1	0
SLC25A14	9016	broad.mit.edu	37	X	129492703	129492703	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:129492703G>T	ENST00000543953.1	+	6	532	c.483G>T	c.(481-483)ctG>ctT	p.L161L	SLC25A14_ENST00000545805.1_Silent_p.L196L|SLC25A14_ENST00000218197.5_Silent_p.L196L|SLC25A14_ENST00000339231.3_Silent_p.L193L|SLC25A14_ENST00000361980.5_Silent_p.L193L|SLC25A14_ENST00000467496.1_3'UTR			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	196					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CCAGGGGTCTGTGGAGGGTAA	0.373000													16	13					7.21436e-19	1.01247e-18	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133789688	133789688	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:133789688C>A	ENST00000321016.8	-	18	4162	c.3932G>T	c.(3931-3933)gGg>gTg	p.G1311V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1311V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1311	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAATTCCTCCCCCGTCCTTCG	0.682000													10	3					0.00829132	0.00855419	1	1	0
DCST1	149095	broad.mit.edu	37	1	155015857	155015857	+	Silent	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:155015857C>G	ENST00000295542.1	+	10	1140	c.1044C>G	c.(1042-1044)ctC>ctG	p.L348L	DCST1_ENST00000392480.1_Silent_p.L348L|DCST1_ENST00000368419.2_Silent_p.L348L|DCST1_ENST00000423025.2_Silent_p.L323L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	348						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGCTGGGGCTCAACACAAGCT	0.662000													35	131					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173996992	173996992	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:173996992G>C	ENST00000457714.1	+	6	1630	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.D401H|NLGN1_ENST00000401917.3_Missense_Mutation_p.D441H|NLGN1_ENST00000361589.4_Missense_Mutation_p.D401H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	418					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.D401N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAATATAGTAGATAGCGATGA	0.353000													20	101					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118968718	118968718	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:118968718C>A	ENST00000409993.2	-	8	2315	c.764G>T	c.(763-765)tGt>tTt	p.C255F	DPAGT1_ENST00000432443.2_Missense_Mutation_p.C148F|DPAGT1_ENST00000354202.4_Missense_Mutation_p.C255F			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	255					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGCAAAGTAACAGAAGGTATC	0.522000													78	105					1.11057e-38	1.88351e-38	1	1	0
CR1L	1379	broad.mit.edu	37	1	207851615	207851615	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:207851615C>A	ENST00000508064.2	+	3	410	c.350C>A	c.(349-351)tCc>tAc	p.S117Y	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	117	Sushi 2.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGTTCAGATCCCAAATTAAA	0.413000													19	57					8.10497e-08	9.41262e-08	1	1	0
C1GALT1	56913	broad.mit.edu	37	7	7283291	7283291	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:7283291G>T	ENST00000436587.2	+	4	1248	c.1025G>T	c.(1024-1026)cGt>cTt	p.R342L	C1GALT1_ENST00000223122.2_Missense_Mutation_p.R342L	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	342					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTACCTGAACGTATACTAAAG	0.318000													37	64					4.62619e-21	6.76602e-21	1	1	0
PPM1H	57460	broad.mit.edu	37	12	63195648	63195648	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:63195648A>T	ENST00000228705.6	-	3	1004	c.704T>A	c.(703-705)aTt>aAt	p.I235N		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	235	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CTCATGGGGAATCTTCTTCTC	0.652000													17	36					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19503152	19503152	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:19503152G>T	ENST00000507958.1	-	13	2569	c.1579C>A	c.(1579-1581)Ctt>Att	p.L527I	CDH18_ENST00000274170.4_Missense_Mutation_p.L527I|CDH18_ENST00000502796.1_Missense_Mutation_p.L527I|CDH18_ENST00000506372.1_Missense_Mutation_p.L527I|CDH18_ENST00000511273.1_Missense_Mutation_p.L527I|CDH18_ENST00000382275.1_Missense_Mutation_p.L527I			Q13634	CAD18_HUMAN	cadherin 18, type 2	527	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CGTTCATCAAGAAAGAAGTTA	0.348000													26	70					4.7796e-09	5.68602e-09	1	1	0
PCSK6	5046	broad.mit.edu	37	15	101933595	101933595	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:101933595G>A	ENST00000348070.1	-	9	1027	c.1028C>T	c.(1027-1029)gCa>gTa	p.A343V	PCSK6_ENST00000344273.2_Missense_Mutation_p.A343V|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.A343V|PCSK6_ENST00000331826.7_Missense_Mutation_p.A178V|PCSK6_ENST00000358417.3_Missense_Mutation_p.A343V	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	344	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTCCCAGATGCCCAGACGAA	0.627000													24	32					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165746585	165746585	+	Nonsense_Mutation	SNP	G	G	A	rs141939882		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:165746585G>A	ENST00000366882.1	-	23	2423	c.2269C>T	c.(2269-2271)Cga>Tga	p.R757*	PDE10A_ENST00000354448.4_Nonsense_Mutation_p.R757*|PDE10A_ENST00000539869.2_Nonsense_Mutation_p.R767*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	757					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.R757*(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCTCCCCTCGAATCACCTTC	0.488000													31	92					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454898	84454898	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:84454898C>T	ENST00000377084.2	-	1	1630	c.745G>A	c.(745-747)Ggt>Agt	p.G249S		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	249	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGGTCTTTACCCTGCAGTCTG	0.547000													21	18					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63069894	63069894	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:63069894C>T	ENST00000332793.6	+	7	1166	c.1164C>T	c.(1162-1164)gtC>gtT	p.V388V	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	388						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGGAGCTGTCGCTCTCATAG	0.433000													18	75					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	79245526	79245526	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:79245526G>T	ENST00000566780.1	+	9	1444	c.1078G>T	c.(1078-1080)Gtg>Ttg	p.V360L	WWOX_ENST00000406884.2_Missense_Mutation_p.V180L|WWOX_ENST00000402655.2_Missense_Mutation_p.R144L|WWOX_ENST00000539474.2_Silent_p.P169P	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	360	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TGCCACCACCGTGTACTGTGC	0.512000													23	34					1.17739e-12	1.50007e-12	1	1	0
OR5V1	81696	broad.mit.edu	37	6	29323029	29323029	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:29323029A>G	ENST00000377154.1	-	4	1243	c.944T>C	c.(943-945)tTg>tCg	p.L315S	OR5V1_ENST00000543825.1_Missense_Mutation_p.L315S			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTACTATCCAAAGAGGAAAT	0.353000													16	67					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484558	43484558	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:43484558A>G	ENST00000395891.1	+	11	2392	c.1787A>G	c.(1786-1788)gAg>gGg	p.E596G	HECW1_ENST00000453890.1_Missense_Mutation_p.E596G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	596					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GACTCCTCGGAGAAGGATGGG	0.692000													28	38					0	0	1	0	0
CTSF	8722	broad.mit.edu	37	11	66333815	66333815	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:66333815G>C	ENST00000310325.5	-	5	777	c.668C>G	c.(667-669)gCc>gGc	p.A223G	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	223					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACGGTCCAGGGCCTGGATCTT	0.572000													35	7					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101911461	101911461	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:101911461G>T	ENST00000374994.4	+	9	1503		c.e9-1		TGFBR1_ENST00000550253.1_Splice_Site|TGFBR1_ENST00000552516.1_Splice_Site|TGFBR1_ENST00000374990.2_Splice_Site	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1						activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ttttCTTGTAGGCCTTGAGAG	0.323000													8	1					0.00307968	0.00320911	1	1	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:140481411C>A	ENST00000288602.6	-	11	1457	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	86					2.48779e-11	3.09144e-11	1	1	0
KITLG	4254	broad.mit.edu	37	12	88900136	88900136	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:88900136G>C	ENST00000347404.5	-	7	1222	c.650C>G	c.(649-651)aCa>aGa	p.T217R	KITLG_ENST00000357116.4_Missense_Mutation_p.T28R|KITLG_ENST00000228280.5_Missense_Mutation_p.T245R|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	245					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						AACTGCCCTTGTAAGACTTGG	0.328000									Testicular Cancer, Familial Clustering of				43	14					0	0	1	0	0
RHOXF2	84528	broad.mit.edu	37	X	119293264	119293264	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:119293264C>A	ENST00000371388.3	+	2	613	c.423C>A	c.(421-423)ttC>ttA	p.F141L		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	141						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						TCCACGCCTTCACCCCATTGC	0.647000													15	24					3.32936e-07	3.80986e-07	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133489362	133489362	+	Silent	SNP	G	G	T	rs72987798	by1000genomes	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:133489362G>T	ENST00000409261.1	-	17	5764	c.5391C>A	c.(5389-5391)acC>acA	p.T1797T	NCKAP5_ENST00000317721.6_Silent_p.T1797T|NCKAP5_ENST00000409213.1_Silent_p.T478T|NCKAP5_ENST00000405974.3_Silent_p.T478T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1797							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCCTCTGGCGGTCATGATGG	0.532000													53	54					8.44121e-28	1.32248e-27	1	1	0
HLF	3131	broad.mit.edu	37	17	53345167	53345167	+	Silent	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:53345167G>C	ENST00000226067.5	+	2	644	c.171G>C	c.(169-171)ccG>ccC	p.P57P	HLF_ENST00000573945.1_5'UTR|HLF_ENST00000575345.1_5'UTR|HLF_ENST00000430986.2_5'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	57					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						GTAACAGCCCGACGGTCCCCC	0.458000			T	TCF3	ALL								21	88					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823900	70823900	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557000													4	109					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150885486	150885486	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:150885486C>T	ENST00000261800.5	-	23	12702	c.12690G>A	c.(12688-12690)ctG>ctA	p.L4230L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4230					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCCATCTCCAGGGGGAAGG	0.642000													89	156					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99313112	99313112	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:99313112A>C	ENST00000408927.3	+	6	631	c.518A>C	c.(517-519)cAa>cCa	p.Q173P	RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.Q174P|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.Q125P|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.Q174P|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.Q124P	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	173							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GATTCGCTTCAAGCTCAGCTT	0.343000			T	NUP98	T-ALL								6	16					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126070978	126070978	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:126070978A>T	ENST00000368364.3	+	1	253	c.56A>T	c.(55-57)gAc>gTc	p.D19V	HEY2_ENST00000368365.1_Intron	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	19					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GAGACCATCGACGTGGGGAGC	0.692000													8	3					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101413824	101413824	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:101413824C>A	ENST00000392979.3	+	8	1003	c.642C>A	c.(640-642)caC>caA	p.H214Q	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.H249Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	249						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCATCATACACAACAAAGAAA	0.313000										HNSCC(74;0.22)			33	11					4.4194e-11	5.47431e-11	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142575511	142575511	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142575511G>T	ENST00000359396.3	-	3	487	c.242C>A	c.(241-243)aCa>aAa	p.T81K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	81					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTGTAGCGCTGTTTCCCCCAT	0.567000													44	137					1.86633e-21	2.7502e-21	1	1	0
RBM4	5936	broad.mit.edu	37	11	66411409	66411409	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:66411409A>T	ENST00000409406.1	+	2	1678	c.901A>T	c.(901-903)Act>Tct	p.T301S	RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.T301S|RBM4_ENST00000514361.3_Missense_Mutation_p.T276S|RBM4_ENST00000310092.7_Missense_Mutation_p.T301S|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.T301S|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.T276S|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000398692.4_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgcagctTCCACTTCATATTA	0.612000													83	22					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805725	169805725	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:169805725G>T	ENST00000274629.4	-	4	1001	c.559C>A	c.(559-561)Ctg>Atg	p.L187M	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	187					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGGCCGCCAGGATGGACAGG	0.622000													38	62					1.15505e-17	1.58959e-17	1	1	0
LRP2	4036	broad.mit.edu	37	2	170042337	170042337	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:170042337T>A	ENST00000263816.3	-	50	9806	c.9521A>T	c.(9520-9522)tAc>tTc	p.Y3174F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3174	EGF-like 12; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTACAGATGTAGGAGCCTAT	0.458000													106	109					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223438117	223438117	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:223438117G>C	ENST00000343846.3	-	4	1212	c.579C>G	c.(577-579)atC>atG	p.I193M	SUSD4_ENST00000366878.4_Missense_Mutation_p.I193M|SUSD4_ENST00000454695.2_Missense_Mutation_p.I33M|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.I193M			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	193	Sushi 3.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGAGCTCAGAGATGTTTACAT	0.478000													25	85					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840825	1840825	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:1840825C>A	ENST00000331238.5	-	2	309	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	97					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GCACGAAGCCCTCGAAGGTGC	0.652000													31	30					3.90053e-15	5.16762e-15	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143029565	143029565	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:143029565C>A	ENST00000343257.2	+	11	1307	c.1220C>A	c.(1219-1221)cCa>cAa	p.P407Q		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	407					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTCACCTTCCCACCAGGAATG	0.483000													19	61					1.56452e-12	1.98682e-12	1	1	0
CDH7	1005	broad.mit.edu	37	18	63530070	63530070	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:63530070G>T	ENST00000536984.2	+	11	2475	c.1781G>T	c.(1780-1782)tGc>tTc	p.C594F	CDH7_ENST00000323011.3_Missense_Mutation_p.C594F|CDH7_ENST00000397968.2_Missense_Mutation_p.C594F			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	594	Cadherin 5.			AQTCNAEAYV -> TQTAMQRLC (in Ref. 1; CAC13127).	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GCCCAGACCTGCAATGCAGAG	0.537000													15	17					1.49906e-05	1.6478e-05	1	1	0
AMER1	139285	broad.mit.edu	37	X	63412647	63412647	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:63412647T>A	ENST00000330258.3	-	2	792	c.520A>T	c.(520-522)Agc>Tgc	p.S174C	AMER1_ENST00000374869.3_Missense_Mutation_p.S174C|AMER1_ENST00000403336.1_Missense_Mutation_p.S174C	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CGGATACTGCTAAAAAAGCCT	0.557000													30	58					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58558096	58558096	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:58558096A>C	ENST00000348616.4	+	5	812	c.512A>C	c.(511-513)aAc>aCc	p.N171T	CDH26_ENST00000244047.5_Missense_Mutation_p.N171T	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	171	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAGGAATTTAACATCACTGTG	0.453000													5	185					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54410071	54410071	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:54410071G>A	ENST00000296733.1	-	12	1697	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M	CDC20B_ENST00000322374.6_Missense_Mutation_p.T470M|CDC20B_ENST00000381375.2_Missense_Mutation_p.T512M|CDC20B_ENST00000334206.5_3'UTR	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	512										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			tacagaggccgtcccatcagc	0.527000													12	51					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415897	5415897	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:5415897A>C	ENST00000341928.2	-	13	2327	c.1987T>G	c.(1987-1989)Tgc>Ggc	p.C663G	EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.C663G|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	663	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TAGCAGAGGCACAGAGCCAGA	0.557000													18	164					0	0	1	0	0
SHISA2	387914	broad.mit.edu	37	13	26620821	26620821	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:26620821C>A	ENST00000319420.3	-	2	773	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	240					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						AGATACTGCCCTTGATGTGGC	0.562000													46	44					3.77016e-25	5.75659e-25	1	1	0
INADL	10207	broad.mit.edu	37	1	62321811	62321811	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:62321811A>T	ENST00000371158.2	+	18	2336	c.2222A>T	c.(2221-2223)aAt>aTt	p.N741I	INADL_ENST00000316485.6_Missense_Mutation_p.N741I	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	741	PDZ 5.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTCTCAGTCAATGAATACTGT	0.493000													79	20					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688728	3688728	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:3688728C>A	ENST00000250699.2	-	4	700	c.629G>T	c.(628-630)cGg>cTg	p.R210L	CHRNA10_ENST00000534359.1_Missense_Mutation_p.G28C	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	210					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CACGCGCCGCCGCGCCGGCAT	0.736000													10	5					1.08611e-07	1.2576e-07	1	1	0
TRIM29	23650	broad.mit.edu	37	11	120008296	120008296	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:120008296G>T	ENST00000341846.5	-	1	865	c.444C>A	c.(442-444)acC>acA	p.T148T		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	148					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGTTCCGCCGGGTCTCCCCGG	0.632000													55	229					1.48341e-19	2.1122e-19	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17202828	17202828	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:17202828C>G	ENST00000261381.6	-	12	2688	c.2604G>C	c.(2602-2604)atG>atC	p.M868I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	868					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTCTGCTCCATGTAGGCAT	0.597000													36	83					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1318506	1318506	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:1318506G>A	ENST00000320895.5	-	17	1852	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	CLPTM1L_ENST00000320927.6_Missense_Mutation_p.T496M|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.T363M	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	532					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGGCGCCCGCGTGGCCTTCTC	0.537000													28	120					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69092999	69092999	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:69092999A>T	ENST00000295379.1	-	2	1197	c.1039T>A	c.(1039-1041)Tac>Aac	p.Y347N		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	347					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TAGGCTTCGTATCCAGGCGGA	0.517000													51	40					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	395289	395289	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:395289C>A	ENST00000280886.6	-	25	3178	c.3091G>T	c.(3091-3093)Gcc>Tcc	p.A1031S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1031						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TAGACCAAGGCCACGTGGTCG	0.647000													13	43					5.50884e-06	6.11137e-06	1	1	0
CPSF3	51692	broad.mit.edu	37	2	9588429	9588429	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:9588429C>T	ENST00000460593.1	+	11	2372	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	CPSF3_ENST00000238112.3_Missense_Mutation_p.R449W			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	449					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCATAATCCTCGGAATACAGA	0.393000													17	69					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170070	20170070	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:20170070C>A	ENST00000338912.5	-	0	201																											CACACCAATCCCATCCACTCA	0.557000													23	59					5.45024e-15	7.20243e-15	1	1	0
C1orf94	84970	broad.mit.edu	37	1	34663231	34663231	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:34663231G>T	ENST00000488417.1	+	2	846	c.726G>T	c.(724-726)caG>caT	p.Q242H	C1orf94_ENST00000373374.3_Missense_Mutation_p.Q52H	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	52							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TTCTGTCCCAGTTCCCACTGA	0.542000													19	37					2.37509e-13	3.0711e-13	1	1	0
GPHN	10243	broad.mit.edu	37	14	67525398	67525398	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:67525398A>G	ENST00000478722.1	+	11	2160	c.1039A>G	c.(1039-1041)Aga>Gga	p.R347G	GPHN_ENST00000305960.9_Missense_Mutation_p.R283G|GPHN_ENST00000543237.1_Missense_Mutation_p.R360G|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Missense_Mutation_p.R329G|GPHN_ENST00000315266.5_Missense_Mutation_p.R314G	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	314	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CAAGGTGGCTAGAAGACATCG	0.403000			T	MLL	AL								34	54					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351109	98351109	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:98351109T>C	ENST00000264972.5	+	9	1231	c.1016T>C	c.(1015-1017)aTa>aCa	p.I339T	ZAP70_ENST00000451498.2_Missense_Mutation_p.I32T|ZAP70_ENST00000442208.1_Missense_Mutation_p.I213T|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	339	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AACCTCCTCATAGCTGACATT	0.617000													95	109					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603975	10603975	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:10603975C>T	ENST00000334534.5	+	8	1355	c.1175C>T	c.(1174-1176)aCa>aTa	p.T392I		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		AGATTATCTACAATTCAGAAC	0.438000													25	12					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15615861	15615861	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:15615861G>T	ENST00000281513.5	-	14	1316	c.1291C>A	c.(1291-1293)Cca>Aca	p.P431T	NBAS_ENST00000441750.1_Missense_Mutation_p.P431T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	431										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGAGGTGATGGTTCAAACCAT	0.383000													12	83					7.03913e-09	8.3613e-09	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158639569	158639569	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158639569T>C	ENST00000368148.3	-	13	1787	c.1607A>G	c.(1606-1608)gAc>gGc	p.D536G	SPTA1_ENST00000368147.3_Missense_Mutation_p.D536G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	536					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCAGTCTTGTCTACAGTCTG	0.408000													47	361					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3732006	3732006	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:3732006C>A	ENST00000378230.3	-	22	3062	c.2738G>T	c.(2737-2739)gGa>gTa	p.G913V		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	913						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTTGCTCAGTCCGCCCTTCGG	0.637000													16	2					8.28177e-16	1.1104e-15	1	1	0
DNAAF3	352909	broad.mit.edu	37	19	55672063	55672063	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:55672063C>A	ENST00000527223.2	-	9	1198	c.1197G>T	c.(1195-1197)ggG>ggT	p.G399G	DNAAF3_ENST00000391720.4_Silent_p.G378G|DNAAF3_ENST00000455045.1_Silent_p.G277G|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Silent_p.G331G	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	331																	CCAGGTCCCCCCCGGTGGCTC	0.677000											OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	106	37					1.14165e-66	2.04268e-66	1	1	0
HCRTR2	3062	broad.mit.edu	37	6	55039415	55039415	+	Silent	SNP	C	C	T	rs143272352		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:55039415C>T	ENST00000370862.3	+	1	366	c.30C>T	c.(28-30)ccC>ccT	p.P10P		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	10			P -> S (in dbSNP:rs41271310).		feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGACTCCCCCCCTTGTCGCA	0.557000													65	235					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497997	179497997	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179497997T>C	ENST00000589042.1	-	233	43227	c.43003A>G	c.(43003-43005)Aca>Gca	p.T14335A	TTN_ENST00000359218.5_Missense_Mutation_p.T5395A|TTN_ENST00000342992.6_Missense_Mutation_p.T11767A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T12694A|TTN_ENST00000460472.2_Missense_Mutation_p.T5270A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T5462A|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12694							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTGGGCTGTTTCACCAACA	0.423000													48	111					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52469464	52469464	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:52469464A>G	ENST00000356297.4	-	4	416	c.316T>C	c.(316-318)Tat>Cat	p.Y106H	PXDNL_ENST00000543296.1_Missense_Mutation_p.Y106H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	106					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCATTCTTATACAGGTACCTG	0.284000													11	19					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2121808	2121808	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:2121808A>G	ENST00000219476.3	+	19	2600	c.1970A>G	c.(1969-1971)aAg>aGg	p.K657R	TSC2_ENST00000350773.4_Missense_Mutation_p.K657R|TSC2_ENST00000401874.2_Missense_Mutation_p.K657R|TSC2_ENST00000353929.4_Missense_Mutation_p.K657R|TSC2_ENST00000568454.1_Missense_Mutation_p.K668R|TSC2_ENST00000382538.6_Missense_Mutation_p.K608R|TSC2_ENST00000439673.2_Missense_Mutation_p.K620R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	657					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGCTCTGAGAAGAAGACCAGC	0.667000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	1					0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28014490	28014490	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:28014490T>A	ENST00000381116.1	-	5	330	c.96A>T	c.(94-96)acA>acT	p.T32T	MTIF3_ENST00000405591.2_Silent_p.T32T|MTIF3_ENST00000431572.2_Silent_p.T32T|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Silent_p.T32T			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	32					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		GTGCTGGTGCTGTCTTTTGCA	0.418000													33	28					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18630086	18630086	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:18630086G>T	ENST00000406451.3	+	4	533	c.383G>T	c.(382-384)aGa>aTa	p.R128I	HDAC9_ENST00000428307.2_Missense_Mutation_p.R128I|HDAC9_ENST00000441542.2_Missense_Mutation_p.R131I|HDAC9_ENST00000432645.2_Missense_Mutation_p.R128I|HDAC9_ENST00000405010.3_Missense_Mutation_p.R128I|HDAC9_ENST00000524023.1_Missense_Mutation_p.R97I|HDAC9_ENST00000417496.2_Missense_Mutation_p.R170I|HDAC9_ENST00000406072.1_Missense_Mutation_p.R159I|HDAC9_ENST00000401921.1_Missense_Mutation_p.R131I|HDAC9_ENST00000456174.2_Missense_Mutation_p.R100I	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	128					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTCCTCTCAGAGGCAAAGAT	0.473000													9	12					6.42651e-13	8.22804e-13	1	1	0
IGSF9	57549	broad.mit.edu	37	1	159901666	159901666	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:159901666C>A	ENST00000368094.1	-	11	1495	c.1298G>T	c.(1297-1299)gGg>gTg	p.G433V	IGSF9_ENST00000361509.3_Missense_Mutation_p.G417V|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	433	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCTCCCGCCCTACTTCTTG	0.592000													93	44					1.41191e-52	2.47519e-52	1	1	0
PCDHGA11	56105	broad.mit.edu	37	5	140801189	140801189	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140801189C>T	ENST00000398587.2	+	1	428	c.395C>T	c.(394-396)cCc>cTc	p.P132L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.P132L|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAACGCCCCCAGCTTCCAG	0.473000													4	19					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43654344	43654344	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:43654344A>T	ENST00000374466.3	+	3	1178	c.843A>T	c.(841-843)agA>agT	p.R281S	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R281S	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	281					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTGCTGAAAGAACTGAAGCAT	0.368000													5	79					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458825	120458825	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:120458825C>G	ENST00000256646.2	-	34	6739	c.6520G>C	c.(6520-6522)Ggg>Cgg	p.G2174R		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2174					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTAAGATCCCAGGGGATGTA	0.498000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				41	8					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96166277	96166277	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:96166277G>T	ENST00000453304.1	-	6	1142	c.794C>A	c.(793-795)aCc>aAc	p.T265N	UNC5C_ENST00000506749.1_Missense_Mutation_p.T265N	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	265	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCCGTCCAGGTGGACCAGCC	0.502000													33	7					6.84511e-11	8.43888e-11	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55708536	55708536	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:55708536C>A	ENST00000376350.3	-	9	1961	c.1939G>T	c.(1939-1941)Gca>Tca	p.A647S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.A469S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	647	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTCCTCTCTGCCCACACGGTG	0.557000													33	16					4.3181e-19	6.08743e-19	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4512994	4512994	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:4512994A>G	ENST00000301286.3	-	3	935	c.936T>C	c.(934-936)agT>agC	p.S312S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	312	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.S240S(1)|p.S312S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGACAGTCTTACTGGTGTCCA	0.557000													5	48					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19213017	19213017	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:19213017T>A	ENST00000263200.10	-	13	2159	c.2087A>T	c.(2086-2088)cAg>cTg	p.Q696L	CLTCL1_ENST00000353891.5_Missense_Mutation_p.Q696L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.Q696L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	696	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CACCAGGGCCTGCGTGCCCAG	0.542000			T	?	ALCL								10	8					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820397	179820397	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:179820397C>G	ENST00000367612.3	-	4	523	c.136G>C	c.(136-138)Gcc>Ccc	p.A46P		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	46						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGACCACAGGCAGAGTGTAGG	0.443000													47	12					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325307	158325307	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158325307T>A	ENST00000444681.2	+	2	569	c.276T>A	c.(274-276)ccT>ccA	p.P92P	CD1E_ENST00000368160.3_Silent_p.P191P|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Silent_p.P191P|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Silent_p.P191P|CD1E_ENST00000368167.3_Silent_p.P191P|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000434258.1_Silent_p.P189P|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368154.1_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	191					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACACCTGCCCTCGATTTCTAG	0.507000													73	18					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723379	142723379	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142723379G>A	ENST00000350513.2	-	1	903	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AAAGGATTCAGGAAGGGGGTT	0.453000													27	75					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63215158	63215158	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:63215158G>T	ENST00000263991.5	+	17	3288	c.2806G>T	c.(2806-2808)Gac>Tac	p.D936Y	EHBP1_ENST00000405289.1_Missense_Mutation_p.D901Y|EHBP1_ENST00000354487.3_Missense_Mutation_p.D901Y|EHBP1_ENST00000496857.1_Intron|EHBP1_ENST00000431489.1_Intron|EHBP1_ENST00000405015.3_Intron	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	936						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CTTAGAAAATGACCTTGATAC	0.323000													28	72					1.62565e-12	2.06109e-12	1	1	0
ZBTB14	7541	broad.mit.edu	37	18	5291201	5291201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:5291201C>A	ENST00000357006.4	-	4	1344	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	ZBTB14_ENST00000400143.3_Nonsense_Mutation_p.E336*	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CCACACACCTCACAGCTATAG	0.448000													22	174					4.35082e-09	5.1957e-09	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4512995	4512995	+	Missense_Mutation	SNP	C	C	G	rs56271257		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:4512995C>G	ENST00000301286.3	-	3	934	c.935G>C	c.(934-936)aGt>aCt	p.S312T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	312	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GACAGTCTTACTGGTGTCCAC	0.557000													5	47					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59500261	59500261	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:59500261C>A	ENST00000038176.3	-	27	2424		c.e27-1		NSMAF_ENST00000427130.2_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CAGACCACACCTAGGATGGAA	0.418000													14	29					1.5739e-10	1.92818e-10	1	1	0
CFHR3	10878	broad.mit.edu	37	1	196749011	196749011	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:196749011C>G	ENST00000471440.2	+	3	412	c.338C>G	c.(337-339)gCc>gGc	p.A113G	CFHR3_ENST00000367425.4_Missense_Mutation_p.A113G|CFHR3_ENST00000391985.3_Missense_Mutation_p.A113G					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						ACAGAAGTTGCCTGCCATCCT	0.418000													8	4					0	0	1	0	0
TRIM27	5987	broad.mit.edu	37	6	28872209	28872209	+	Silent	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:28872209T>G	ENST00000377199.3	-	8	1536	c.1180A>C	c.(1180-1182)Aga>Cga	p.R394R	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	394	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCACCTTTTCTGCACACTGAG	0.517000			T	RET	papillary thyroid								29	82					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45681911	45681911	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:45681911A>T	ENST00000216211.4	+	2	174	c.142A>T	c.(142-144)Atg>Ttg	p.M48L	UPK3A_ENST00000396082.2_Missense_Mutation_p.M48L	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	48					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCTCTCTGCATGTTTGACAG	0.567000													22	59					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30953749	30953749	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:30953749C>A	ENST00000399914.1	-	12	2384	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	GRIK1_ENST00000389124.2_Missense_Mutation_p.Q636H|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q638H|GRIK1_ENST00000399907.1_Missense_Mutation_p.Q636H|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q638H|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q636H|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q636H|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q621H|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q621H			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	636					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTGTACCTTGCTGCATGAGAG	0.478000													47	63					1.35964e-18	1.89452e-18	1	1	0
IGHV4-31	28396	broad.mit.edu	37	14	106805430	106805430	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:106805430C>A	ENST00000438142.2	-	0	204																											ATGGAGCCACCAGAGACAGTA	0.602000													18	14					3.08376e-08	3.61082e-08	1	1	0
MAP2K7	5609	broad.mit.edu	37	19	7975582	7975582	+	Splice_Site	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:7975582C>T	ENST00000545011.1	+	6	760	c.693_splice	c.e6-1	p.T232_splice	MAP2K7_ENST00000397979.3_Splice_Site_p.T190_splice|MAP2K7_ENST00000397983.3_Splice_Site_p.T206_splice|MAP2K7_ENST00000397981.3_Splice_Site_p.T190_splice			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	190	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TCCCTGCAGACGGACGTCTTC	0.662000													9	4					0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23728899	23728899	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:23728899A>G	ENST00000344962.4	+	3	340	c.251A>G	c.(250-252)cAt>cGt	p.H84R	FAM221A_ENST00000409653.1_Missense_Mutation_p.H26R|FAM221A_ENST00000409192.3_Missense_Mutation_p.H84R|FAM221A_ENST00000409994.3_Missense_Mutation_p.H26R	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	84																	TATAAACAACATAAAACTGAC	0.378000													12	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599131	179599131	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179599131T>A	ENST00000589042.1	-	52	15644	c.15420A>T	c.(15418-15420)gcA>gcT	p.A5140A	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.A3896A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.A4823A|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4823	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCAACATCTGCACTATTAA	0.383000													36	188					0	0	1	0	0
IRAK1	3654	broad.mit.edu	37	X	153284706	153284706	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:153284706C>A	ENST00000369980.3	-	3	545	c.378G>T	c.(376-378)gaG>gaT	p.E126D	IRAK1_ENST00000369974.2_Missense_Mutation_p.E126D|IRAK1_ENST00000393687.2_Missense_Mutation_p.E126D|IRAK1_ENST00000429936.2_Missense_Mutation_p.E152D|IRAK1_ENST00000393682.1_Missense_Mutation_p.E152D	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	126	ProST region.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCTCGGCCTCGGCGGGTG	0.682000													17	11					6.49762e-13	8.28513e-13	1	1	0
GLI2	2736	broad.mit.edu	37	2	121747417	121747417	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:121747417G>A	ENST00000452319.1	+	14	3987	c.3927G>A	c.(3925-3927)ctG>ctA	p.L1309L	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.L1309L			P10070	GLI2_HUMAN	GLI family zinc finger 2	1309					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATTCAGCCCTGGCTGGAGTGC	0.652000													7	29					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47876610	47876610	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:47876610T>C	ENST00000289672.2	-	37	5902	c.5852A>G	c.(5851-5853)tAc>tGc	p.Y1951C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1951					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGTGTGCAGGTAGCGGCTGGA	0.592000													24	37					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776864	25776864	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:25776864C>G	ENST00000377905.4	+	9	1148	c.1029C>G	c.(1027-1029)atC>atG	p.I343M	SLC17A4_ENST00000439485.2_Missense_Mutation_p.I113M|SLC17A4_ENST00000397076.2_Missense_Mutation_p.I113M	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	343					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGGATGTATCTGCATTATCC	0.507000													64	205					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282529	152282529	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152282529A>T	ENST00000368799.1	-	3	4868	c.4833T>A	c.(4831-4833)tcT>tcA	p.S1611S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1611	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCCGACTCAGACCGCCTCT	0.567000									Ichthyosis				148	286					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49676866	49676866	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:49676866G>T	ENST00000339139.4	-	4	280	c.44C>A	c.(43-45)cCa>cAa	p.P15Q		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	15						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGGTAAAGATGGAAGCAGCAC	0.388000													59	59					1.43987e-31	2.32823e-31	1	1	0
MCM8	84515	broad.mit.edu	37	20	5974339	5974339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:5974339C>T	ENST00000378896.3	+	18	2805	c.2428C>T	c.(2428-2430)Cag>Tag	p.Q810*	MCM8_ENST00000378883.1_Nonsense_Mutation_p.Q763*|MCM8_ENST00000378886.2_Nonsense_Mutation_p.Q850*|MCM8_ENST00000265187.4_Nonsense_Mutation_p.Q794*	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	810					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ACTAAACATTCAGGTATGTTA	0.279000													20	10					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34621043	34621043	+	Missense_Mutation	SNP	G	G	C	rs149967150		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:34621043G>C	ENST00000404220.3	+	6	753	c.424G>C	c.(424-426)Gtt>Ctt	p.V142L	IFNAR2_ENST00000342101.3_Missense_Mutation_p.V142L|IFNAR2_ENST00000413881.1_Missense_Mutation_p.V70L|IFNAR2_ENST00000342136.4_Missense_Mutation_p.V142L|AP000295.9_ENST00000433395.2_Missense_Mutation_p.L49F|IFNAR2_ENST00000382241.3_Missense_Mutation_p.V142L|IFNAR2_ENST00000382264.3_Missense_Mutation_p.V142L			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	142					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GTTTGAGATTGTTGGTTTTAC	0.373000													31	105					0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006410	72006410	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:72006410C>G	ENST00000370435.4	+	6	716	c.582C>G	c.(580-582)ttC>ttG	p.F194L	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	194						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTAGAAGATTCCTCCTGGCTT	0.333000													11	38					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96963162	96963162	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:96963162A>T	ENST00000470610.2	+	5	1680	c.1637A>T	c.(1636-1638)gAc>gTc	p.D546V	EPHA6_ENST00000389672.5_Intron			Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCAAAACAGACCCATAATTT	0.408000													24	34					0	0	1	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044135	90044135	+	RNA	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:90044135G>A	ENST00000462693.1	+	0	86																											TCAGGATCCAGTGGGGATATT	0.423000													19	138					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197021958	197021958	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:197021958C>T	ENST00000367412.1	-	9	1404	c.1361G>A	c.(1360-1362)tGt>tAt	p.C454Y		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	454	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATTAACAGTACATGGTTCTGT	0.259000													11	37					0	0	1	0	0
CPQ	10404	broad.mit.edu	37	8	97978204	97978204	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:97978204G>A	ENST00000220763.5	+	5	1101	c.891G>A	c.(889-891)ggG>ggA	p.G297G		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	297					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GGGATGTTGGGCAGGGTGCCA	0.363000													6	60					0	0	1	0	0
TMEM100	55273	broad.mit.edu	37	17	53798145	53798145	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:53798145C>A	ENST00000575734.1	-	4	1095	c.287G>T	c.(286-288)gGa>gTa	p.G96V	TMEM100_ENST00000424486.2_Missense_Mutation_p.G96V	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	96						integral to membrane		p.G96V(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TAAAAAAAGTCCAGATGACAG	0.502000													31	70					2.85442e-18	3.9632e-18	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113133593	113133593	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:113133593C>A	ENST00000533760.1	+	17	2372	c.1773C>A	c.(1771-1773)tcC>tcA	p.S591S	NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	719	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATTCTGCATCCTACACCTTTG	0.428000													36	3					2.38262e-10	2.90528e-10	1	1	0
CHD3	1107	broad.mit.edu	37	17	7807859	7807859	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:7807859G>C	ENST00000380358.4	+	25	4172	c.4171G>C	c.(4171-4173)Gac>Cac	p.D1391H	CHD3_ENST00000358181.4_Missense_Mutation_p.D1332H|CHD3_ENST00000330494.7_Missense_Mutation_p.D1332H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1332					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACAGCAGGAAGACCTAGCCCG	0.527000													51	41					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122380828	122380828	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:122380828G>T	ENST00000288912.4	+	7	1992	c.1138G>T	c.(1138-1140)Gca>Tca	p.A380S	WDR66_ENST00000397454.2_Missense_Mutation_p.A380S	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	380							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GTGGACTTTGGCAGTGGAAAC	0.493000													44	18					1.08114e-33	1.7795e-33	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158622406	158622406	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158622406G>T	ENST00000368148.3	-	23	3406	c.3226C>A	c.(3226-3228)Cgt>Agt	p.R1076S	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1076S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1076					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATAGACGACGTCTGCGTTCT	0.438000													20	136					1.01871e-10	1.25097e-10	1	1	0
TSIX	9383	broad.mit.edu	37	X	73042197	73042197	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:73042197G>T	ENST00000604411.1	+	0	30158				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TGTTATTTAGGGACTAAGCCA	0.443000													7	0					8.12818e-05	8.78631e-05	1	1	0
NUDT12	83594	broad.mit.edu	37	5	102888107	102888107	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:102888107T>C	ENST00000230792.2	-	6	1185	c.1089A>G	c.(1087-1089)atA>atG	p.I363M	NUDT12_ENST00000507423.1_Missense_Mutation_p.I345M	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	363	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CAGCATCTTCTATTGTCTCTC	0.428000													11	22					0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126011933	126011933	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:126011933G>C	ENST00000265896.5	+	1	1186	c.288G>C	c.(286-288)agG>agC	p.R96S	SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	96					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TCGAGGCCAGGAGGGTAGGTT	0.468000													10	29					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176608	140176608	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140176608G>T	ENST00000526136.1	+	1	2059	c.2059G>T	c.(2059-2061)Gcg>Tcg	p.A687S	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A687S|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A687S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGCCGCGGGCTCAGA	0.647000													61	122					2.44918e-20	3.5357e-20	1	1	0
SPZ1	84654	broad.mit.edu	37	5	79616081	79616081	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:79616081C>A	ENST00000296739.4	+	1	292	c.47C>A	c.(46-48)aCc>aAc	p.T16N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ATCTCCAAAACCGTTAACCCT	0.483000													68	134					1.14856e-27	1.79585e-27	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142568345	142568345	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142568345C>A	ENST00000392957.2	+	19	3651	c.2864C>A	c.(2863-2865)gCc>gAc	p.A955D	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.A955D|EPHB6_ENST00000411471.2_Missense_Mutation_p.A678D	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	955	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCACCCCAGGCCTGGCTTTCA	0.577000													44	106					4.44401e-20	6.39185e-20	1	1	0
CXorf66	347487	broad.mit.edu	37	X	139047582	139047582	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:139047582C>A	ENST00000370540.1	-	1	97	c.74G>T	c.(73-75)gGa>gTa	p.G25V		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	25						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AGTAGAAGATCCATTGGTTTG	0.323000													43	23					1.86633e-21	2.7502e-21	1	1	0
RAD17	5884	broad.mit.edu	37	5	68669882	68669882	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:68669882C>T	ENST00000509734.1	+	4	946	c.268C>T	c.(268-270)Cca>Tca	p.P90S	RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000380774.3_Missense_Mutation_p.P90S|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000345306.6_Missense_Mutation_p.P79S|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.P79S|RAD17_ENST00000361732.2_Missense_Mutation_p.P79S|RAD17_ENST00000354312.3_Missense_Mutation_p.P79S|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000305138.4_Missense_Mutation_p.P79S			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	90					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGAAAATGAACCATGGGTGGA	0.353000								Other conserved DNA damage response genes					17	42					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54066941	54066941	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:54066941C>A	ENST00000514921.1	+	11	2708	c.2595C>A	c.(2593-2595)tcC>tcA	p.S865S	MLIP_ENST00000502396.1_Silent_p.S876S|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000274897.5_Silent_p.S341S|MLIP_ENST00000370876.2_Silent_p.S185S|MLIP_ENST00000370877.2_Silent_p.S237S|MLIP_ENST00000358276.5_Silent_p.S241S|MLIP_ENST00000509997.1_Silent_p.S195S			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	341						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGTAAAATCCAGAATATTAC	0.338000													16	122					2.94398e-08	3.44974e-08	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93751885	93751885	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:93751885C>T	ENST00000265990.6	+	21	3172	c.2864C>T	c.(2863-2865)tCa>tTa	p.S955L		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	955					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GGATCCACCTCAGAAAAAGAT	0.363000													13	47					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363870	79363870	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:79363870C>A	ENST00000444841.1	-	0	468																											GACATCAGACCCTCTGGAACC	0.433000													3	14					6.4e-05	6.93893e-05	1	1	0
FAAH	2166	broad.mit.edu	37	1	46874131	46874131	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:46874131G>T	ENST00000243167.8	+	8	1036	c.951_splice	c.e8-1	p.V318_splice	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	318					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TTCCCTCCAGGTCTACACCAG	0.592000													121	299					1.22322e-63	2.18112e-63	1	1	0
ATF2	1386	broad.mit.edu	37	2	175939547	175939547	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:175939547A>G	ENST00000264110.2	-	14	1606	c.1308T>C	c.(1306-1308)gaT>gaC	p.D436D	ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000392544.1_Silent_p.D436D|ATF2_ENST00000409635.1_Silent_p.D378D|ATF2_ENST00000409499.1_Silent_p.D75D|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409437.1_Silent_p.D320D|ATF2_ENST00000392543.2_Silent_p.D57D|ATF2_ENST00000345739.5_Silent_p.D378D|ATF2_ENST00000426833.3_Silent_p.D418D	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	436					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CTTCTGAACTATCATCTTTAT	0.408000													32	44					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50192155	50192155	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:50192155C>A	ENST00000335999.6	-	7	644	c.443G>T	c.(442-444)gGg>gTg	p.G148V		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	144	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AGCACAGTGCCCCAGAGGCAG	0.602000													7	4					1.26484e-09	1.51976e-09	1	1	0
WIPF1	7456	broad.mit.edu	37	2	175450272	175450272	+	Silent	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:175450272C>G	ENST00000392547.2	-	2	129	c.30G>C	c.(28-30)ccG>ccC	p.P10P	AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Silent_p.P10P|WIPF1_ENST00000359761.3_Silent_p.P10P|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Silent_p.P10P|WIPF1_ENST00000409891.1_Silent_p.P10P|WIPF1_ENST00000392546.2_Silent_p.P10P|WIPF1_ENST00000272746.5_Silent_p.P10P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	10	Poly-Pro.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCGGGGGCGGCGGGGGTGCTG	0.498000													5	41					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886840	119886840	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:119886840T>C	ENST00000464295.1	-	10	1929	c.1484A>G	c.(1483-1485)cAa>cGa	p.Q495R	GPR156_ENST00000461057.1_Missense_Mutation_p.Q491R|GPR156_ENST00000315843.3_Missense_Mutation_p.Q495R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	495						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		ACCCAGGCTTTGCTCAGTCCA	0.527000													127	25					0	0	1	0	0
IGKV3-15	28913	broad.mit.edu	37	2	89384826	89384826	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:89384826G>T	ENST00000390252.2	-	0	288																											TGAGGAGCCTGGGAGCCTGGC	0.592000													34	42					1.32667e-27	2.07226e-27	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1988129	1988129	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:1988129C>A	ENST00000382722.5	-	15	1999	c.1637G>T	c.(1636-1638)cGg>cTg	p.R546L	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.R546L|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.R431L|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.R546L|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.R482L|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.R482L	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	546	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CACCTTGTACCGGGGCGCCAG	0.622000													32	12					9.78306e-22	1.44708e-21	1	1	0
GALNT14	79623	broad.mit.edu	37	2	31178781	31178781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:31178781G>A	ENST00000349752.5	-	5	1168	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	GALNT14_ENST00000356174.3_Nonsense_Mutation_p.Q144*|GALNT14_ENST00000324589.5_Nonsense_Mutation_p.Q182*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.Q157*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.Q142*	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	177	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GACCTACCTTGCCGTTCATTA	0.527000													156	233					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644134	207644134	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:207644134C>T	ENST00000367057.3	+	7	1464	c.1275C>T	c.(1273-1275)caC>caT	p.H425H	CR2_ENST00000458541.2_Silent_p.H425H|CR2_ENST00000367058.3_Silent_p.H425H|CR2_ENST00000367059.3_Silent_p.H425H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	425	Sushi 7.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AAGATAGACACATGGTCCGCT	0.443000													14	58					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30914483	30914483	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:30914483C>A	ENST00000597505.1	-	34	4954	c.4955G>T	c.(4954-4956)cGt>cTt	p.R1652L	DCDC1_ENST00000406071.2_Missense_Mutation_p.R390L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GACTGCTATACGTTTGGTTGC	0.423000													27	52					2.44723e-14	3.20955e-14	1	1	0
BTRC	8945	broad.mit.edu	37	10	103296383	103296383	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:103296383A>T	ENST00000370187.3	+	12	1668	c.1550A>T	c.(1549-1551)aAg>aTg	p.K517M	BTRC_ENST00000408038.2_Missense_Mutation_p.K481M|BTRC_ENST00000393441.4_Missense_Mutation_p.K476M|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	517					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TTTGATAACAAGAGGATAGTC	0.388000													37	105					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129635886	129635886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:129635886C>A	ENST00000421865.2	+	24	3547	c.3498C>A	c.(3496-3498)tgC>tgA	p.C1166*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1166	Laminin EGF-like 14; first part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCAGCAGCTGCTATTGCTTCG	0.512000													50	5					3.87107e-10	4.69457e-10	1	1	0
DRGX	644168	broad.mit.edu	37	10	50594740	50594740	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:50594740C>A	ENST00000374139.2	-	4	409	c.399G>T	c.(397-399)ctG>ctT	p.L133L	DRGX_ENST00000434016.1_Silent_p.L138L			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	138					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCTGGGCCTCCAGCGCCTCCT	0.632000													27	28					4.59853e-10	5.56383e-10	1	1	0
ZNF75D	7626	broad.mit.edu	37	X	134427933	134427933	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:134427933G>C	ENST00000370766.3	-	3	2843	c.134C>G	c.(133-135)cCt>cGt	p.P45R	ZNF75D_ENST00000370764.1_Missense_Mutation_p.P45R|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	45					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGCGCTCTCAGGACCAAGATT	0.498000													48	31					0	0	1	0	0
NOXO1	124056	broad.mit.edu	37	16	2030143	2030143	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:2030143A>T	ENST00000354249.4	-	5	807	c.438T>A	c.(436-438)tcT>tcA	p.S146S	TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Silent_p.S147S|NOXO1_ENST00000566005.1_Silent_p.S151S|NOXO1_ENST00000397280.4_Silent_p.S152S	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	152					cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						CCGCAGCGCGAGAAAGAGGCT	0.667000													3	15					0	0	1	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744390	31744390	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:31744390G>T	ENST00000399889.2	-	1	167	c.142C>A	c.(142-144)Ctg>Atg	p.L48M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	48	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GAGGAACCCAGCTGGCAGGTG	0.602000													55	72					1.93748e-29	3.07868e-29	1	1	0
NYAP2	57624	broad.mit.edu	37	2	226447714	226447714	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:226447714G>T	ENST00000272907.6	+	4	1994	c.1581G>T	c.(1579-1581)aaG>aaT	p.K527N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	527																	TGCTGCGCAAGTCGTCCAGTG	0.692000													13	8					4.3838e-07	5.00914e-07	1	1	0
NHS	4810	broad.mit.edu	37	X	17745930	17745930	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:17745930C>T	ENST00000380060.3	+	6	3979	c.3641C>T	c.(3640-3642)aCa>aTa	p.T1214I	NHS_ENST00000398097.3_Missense_Mutation_p.T1058I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1214						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAAACCATAACATCAGCTGGT	0.403000													52	25					0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207326	135207326	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:135207326G>A	ENST00000274513.5	+	5	770	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	SLC25A48_ENST00000420621.1_Missense_Mutation_p.V200M|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.V146M			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	200					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CATCCCCTACGTGTTCCTGAG	0.637000													26	46					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443982	5443982	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:5443982G>T	ENST00000300778.4	+	1	642	c.552G>T	c.(550-552)caG>caT	p.Q184H	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTCCACCAGGATATGATCC	0.512000													113	31					5.11506e-57	9.06893e-57	1	1	0
KLHL4	56062	broad.mit.edu	37	X	86773109	86773109	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:86773109C>A	ENST00000373119.4	+	1	358	c.213C>A	c.(211-213)caC>caA	p.H71Q	KLHL4_ENST00000373114.4_Missense_Mutation_p.H71Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	71						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTGTCCACCACAATATACTGG	0.507000													17	26					1.99824e-07	2.3018e-07	1	1	0
RASEF	158158	broad.mit.edu	37	9	85624577	85624577	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:85624577T>C	ENST00000376447.3	-	6	1198	c.938A>G	c.(937-939)gAt>gGt	p.D313G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	313					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGACTCTGATCAGCATAATC	0.358000													33	6					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397006	179397006	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179397006G>T	ENST00000589042.1	-	358	104560	c.104336C>A	c.(104335-104337)aCc>aAc	p.T34779N	TTN_ENST00000359218.5_Missense_Mutation_p.T25839N|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32211N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T33138N|TTN_ENST00000460472.2_Missense_Mutation_p.T25714N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25906N|TTN-AS1_ENST00000589434.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33138							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTGGGTGGTCGTAACTGG	0.483000													38	43					3.3946e-10	4.13279e-10	1	1	0
ABCA5	23461	broad.mit.edu	37	17	67270214	67270214	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:67270214G>A	ENST00000392676.3	-	20	2714	c.2650C>T	c.(2650-2652)Cac>Tac	p.H884Y	ABCA5_ENST00000392677.2_Missense_Mutation_p.H884Y|ABCA5_ENST00000588877.1_Missense_Mutation_p.H884Y			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	884					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTAAAAGAGTGATGAACCAAA	0.328000													22	58					0	0	1	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205175	26205175	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:26205175C>A	ENST00000360441.4	+	1	318	c.303C>A	c.(301-303)ttC>ttA	p.F101L		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	101					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TTTACGGCTTCGGCGGCTAAT	0.542000													38	48					6.1244e-12	7.69615e-12	1	1	0
IFITM1	8519	broad.mit.edu	37	11	314316	314316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:314316G>A	ENST00000408968.3	+	1	464	c.146G>A	c.(145-147)tGg>tAg	p.W49*	IFITM1_ENST00000528780.1_Nonsense_Mutation_p.W49*|IFITM1_ENST00000328221.5_Nonsense_Mutation_p.W49*	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	49					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TTCTTGAACTGGTGCTGTCTG	0.607000													53	88					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20847204	20847204	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:20847204C>T	ENST00000262715.5	-	36	5228	c.5188G>A	c.(5188-5190)Gat>Aat	p.D1730N	TEP1_ENST00000545983.1_Missense_Mutation_p.D68N|TEP1_ENST00000556935.1_Missense_Mutation_p.D1622N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1730					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGAGTGTATCATCGGAGAGG	0.572000													26	102					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648252	130648252	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:130648252C>A	ENST00000539839.1	+	1	1249	c.667C>A	c.(667-669)Ctt>Att	p.L223I	FZD10_ENST00000229030.4_Silent_p.R255R	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCCGGCCCGCTTCCGCTACC	0.647000													49	152					1.86277e-20	2.69661e-20	1	1	0
LTF	4057	broad.mit.edu	37	3	46497383	46497383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:46497383G>T	ENST00000231751.4	-	4	697	c.402C>A	c.(400-402)tgC>tgA	p.C134*	LTF_ENST00000426532.2_Nonsense_Mutation_p.C90*|LTF_ENST00000417439.1_Nonsense_Mutation_p.C134*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	134	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GGCCTGTGTGGCAGGACTTCA	0.557000													24	7					2.44723e-14	3.20955e-14	1	1	0
TTN	7273	broad.mit.edu	37	2	179612797	179612797	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179612797C>A	ENST00000360870.5	-	46	14552	c.14330G>T	c.(14329-14331)gGg>gTg	p.G4777V	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	887	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCAACCCCTAAAGGCTT	0.428000													21	38					7.45023e-12	9.3322e-12	1	1	0
JMJD1C	221037	broad.mit.edu	37	10	64957234	64957234	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:64957234G>T	ENST00000399262.2	-	13	5799	c.5581C>A	c.(5581-5583)Caa>Aaa	p.Q1861K	JMJD1C_ENST00000402544.1_Missense_Mutation_p.Q1642K|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Q1679K|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1861					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCACATTTTTGGCAGACCCAG	0.388000													32	94					2.46105e-21	3.61294e-21	1	1	0
SIX1	6495	broad.mit.edu	37	14	61115897	61115897	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:61115897A>G	ENST00000247182.6	-	1	283	c.11T>C	c.(10-12)cTg>cCg	p.L4P	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	4					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		AAACGACGGCAGCATCGACAT	0.716000													11	13					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27657349	27657349	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:27657349C>T	ENST00000233557.3	+	6	1279	c.447C>T	c.(445-447)atC>atT	p.I149I	NRBP1_ENST00000379852.3_Silent_p.I149I|NRBP1_ENST00000379863.3_Silent_p.I149I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	149	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TCATTTTTATCACAGAATACA	0.363000													16	209					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31683202	31683202	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:31683202T>A	ENST00000319386.3	+	11	2767	c.1774T>A	c.(1774-1776)Tgt>Agt	p.C592S	CCDC129_ENST00000409210.1_Missense_Mutation_p.C648S|CCDC129_ENST00000451887.2_Missense_Mutation_p.C766S|CCDC129_ENST00000407970.3_Missense_Mutation_p.C740S			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	740										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATGCACTGTGTGTGATCCTGT	0.502000													74	75					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77326001	77326001	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:77326001C>T	ENST00000334955.7	+	1	242	c.215C>T	c.(214-216)cCg>cTg	p.P72L		NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	72						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCAGCCGCCGGCAGCACCT	0.647000													4	35					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587542	55587542	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:55587542T>C	ENST00000333976.4	+	1	457	c.437T>C	c.(436-438)gTt>gCt	p.V146A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTGCTGCTGGTTGTGGGATCC	0.463000													135	42					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922687	104922687	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:104922687A>T	ENST00000262231.10	+	3	1435	c.1187A>T	c.(1186-1188)cAg>cTg	p.Q396L	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	619					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTGAACCTCAGATTAAGGAC	0.458000										HNSCC(12;0.0054)			21	106					0	0	1	0	0
SSR1	6745	broad.mit.edu	37	6	7301603	7301603	+	Splice_Site	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:7301603T>C	ENST00000489567.1	-	4	334		c.e4-2		SSR1_ENST00000479365.1_Silent_p.A161A|SSR1_ENST00000474597.1_Silent_p.A161A|SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000244763.4_Silent_p.A161A|SSR1_ENST00000462112.1_Silent_p.A161A|SSR1_ENST00000397511.2_Silent_p.A161A|SSR1_ENST00000534851.1_Silent_p.A134A			P43307	SSRA_HUMAN	signal sequence receptor, alpha						cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CCATGGGCTCTGCAGGAATGA	0.423000													20	72					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105510240	105510240	+	Silent	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:105510240T>C	ENST00000276654.5	-	5	648	c.540A>G	c.(538-540)ccA>ccG	p.P180P	LRP12_ENST00000424843.2_Silent_p.P161P	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	180	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCCAGGCTTCTGGTATACACT	0.408000													33	86					0	0	1	0	0
CCDC84	338657	broad.mit.edu	37	11	118885784	118885784	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:118885784C>A	ENST00000334418.1	+	9	852	c.796C>A	c.(796-798)Ctt>Att	p.L266I		NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	266										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TGAAGAATTTCTTAAAGAAAG	0.393000													54	179					3.89483e-19	5.50065e-19	1	1	0
FABP3	2170	broad.mit.edu	37	1	31845842	31845842	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:31845842C>G	ENST00000373713.2	-	1	81	c.20G>C	c.(19-21)gGc>gCc	p.G7A		NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	7					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		CTTCCAGGTGCCCAGGAAAGC	0.607000													36	33					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268055	52268055	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:52268055G>T	ENST00000442253.2	+	2	218	c.44G>T	c.(43-45)aGc>aTc	p.S15I	PAQR8_ENST00000360726.3_Missense_Mutation_p.S15I	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	15					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CTGTCGGTCAGCGGGCAGCAG	0.662000													11	69					3.86212e-05	4.19807e-05	1	1	0
DHPS	1725	broad.mit.edu	37	19	12790715	12790715	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:12790715C>A	ENST00000210060.7	-	3	529	c.394G>T	c.(394-396)Gct>Tct	p.A132S	DHPS_ENST00000351660.5_Missense_Mutation_p.A132S|DHPS_ENST00000594424.1_Missense_Mutation_p.A90S|DHPS_ENST00000599481.1_5'UTR	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	132					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	ACGCCGCCAGCTGTGGTCACC	0.577000													21	32					4.35082e-09	5.1957e-09	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52323922	52323922	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:52323922C>A	ENST00000356297.4	-	16	2050	c.1950G>T	c.(1948-1950)ccG>ccT	p.P650P	PXDNL_ENST00000543296.1_Silent_p.P650P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	650					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P650P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGGGTCACGCGGGTAATGAA	0.493000													12	11					5.16669e-11	6.38478e-11	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80101436	80101436	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:80101436G>C	ENST00000466387.1	+	10	1544	c.820G>C	c.(820-822)Ggc>Cgc	p.G274R	CTNNA2_ENST00000540488.1_Missense_Mutation_p.G274R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G274R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.G274R|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G308R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.G274R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	274					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.G274S(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CACGGGCATCGGCGAGCTGGC	0.527000													9	86					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59190399	59190399	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:59190399C>A	ENST00000302040.4	-	1	50	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						AATTTTGTCACAATTGTGTTG	0.408000													32	72					8.88839e-20	1.26907e-19	1	1	0
HDX	139324	broad.mit.edu	37	X	83723632	83723632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:83723632G>A	ENST00000297977.5	-	3	1210	c.1099C>T	c.(1099-1101)Caa>Taa	p.Q367*	HDX_ENST00000506585.2_Nonsense_Mutation_p.Q309*|HDX_ENST00000373177.2_Nonsense_Mutation_p.Q367*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	367						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTGTTTTGATACAGTACA	0.388000													11	30					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056988	48056988	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:48056988C>A	ENST00000316364.5	+	12	1690	c.1251C>A	c.(1249-1251)gtC>gtA	p.V417V	SEMA6D_ENST00000389433.2_Silent_p.V417V|SEMA6D_ENST00000558816.1_Silent_p.V417V|SEMA6D_ENST00000389432.2_Silent_p.V417V|SEMA6D_ENST00000389428.3_Silent_p.V417V|SEMA6D_ENST00000354744.4_Silent_p.V417V|SEMA6D_ENST00000389425.3_Silent_p.V417V|SEMA6D_ENST00000558014.1_Silent_p.V417V|SEMA6D_ENST00000358066.4_Silent_p.V417V|SEMA6D_ENST00000537942.1_Silent_p.V417V|SEMA6D_ENST00000536845.2_Silent_p.V417V|SEMA6D_ENST00000355997.3_Silent_p.V417V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	417	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGACTCGGGTCAGGTGAGATT	0.512000													41	6					6.4771e-29	1.02298e-28	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67039705	67039705	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:67039705G>A	ENST00000340001.4	-	6	936	c.725C>T	c.(724-726)tCa>tTa	p.S242L	ABCA9_ENST00000370732.2_Missense_Mutation_p.S242L|ABCA9_ENST00000453985.2_Missense_Mutation_p.S242L|ABCA9_ENST00000495634.1_Missense_Mutation_p.S242L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	242					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AACATTGACTGATACATAGTA	0.333000													15	64					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67413251	67413251	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:67413251A>T	ENST00000255082.3	-	4	514	c.344T>A	c.(343-345)cTg>cAg	p.L115Q	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	115					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GGTGTTGTGCAGGTCAAGGAC	0.632000													36	117					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183096491	183096491	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:183096491G>T	ENST00000258341.4	+	17	3332	c.3075G>T	c.(3073-3075)tgG>tgT	p.W1025C	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1025	Laminin EGF-like 11.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCGGTCTTGGCCTGGCTGCC	0.473000													36	8					2.47872e-24	3.76998e-24	1	1	0
WDR54	84058	broad.mit.edu	37	2	74652347	74652347	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:74652347G>A	ENST00000348227.4	+	8	869	c.781G>A	c.(781-783)Gct>Act	p.A261T	WDR54_ENST00000409791.1_Missense_Mutation_p.A209T|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	261										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CCTGGACCTGGCTTCTGAGGT	0.522000													5	135					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203652500	203652500	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:203652500G>T	ENST00000357681.5	+	2	1290	c.167G>T	c.(166-168)aGt>aTt	p.S56I	ATP2B4_ENST00000367219.3_Missense_Mutation_p.S56I|ATP2B4_ENST00000391954.2_Missense_Mutation_p.S56I|ATP2B4_ENST00000367218.3_Missense_Mutation_p.S56I|ATP2B4_ENST00000341360.2_Missense_Mutation_p.S56I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	56					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AATCTCTGCAGTAGACTGAAA	0.488000													35	85					1.836e-18	2.556e-18	1	1	0
ADAMTS8	11095	broad.mit.edu	37	11	130275912	130275912	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:130275912C>A	ENST00000257359.6	-	9	2917	c.2211G>T	c.(2209-2211)acG>acT	p.T737T		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	737	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCCCATCAGCCGTCTTCAGCG	0.572000													56	68					4.33383e-22	6.43484e-22	1	1	0
OR2A25	392138	broad.mit.edu	37	7	143771869	143771869	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:143771869T>C	ENST00000408898.2	+	1	595	c.557T>C	c.(556-558)cTt>cCt	p.L186P		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GTTCTCAAACTTGCCTGTGCG	0.443000													92	75					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35944173	35944173	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:35944173T>A	ENST00000297866.5	+	2	355	c.289T>A	c.(289-291)Tct>Act	p.S97T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	97										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGAACTTGCTTCTGGCCTTCA	0.343000													20	29					0	0	1	0	0
CASC10	399726	broad.mit.edu	37	10	21784717	21784717	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:21784717G>T	ENST00000377113.5	-	2	670	c.223C>A	c.(223-225)Ccc>Acc	p.P75T		NM_001010911.2	NP_001010911.1			cancer susceptibility candidate 10																		CGCGGGCTGGGAACCCGGTGG	0.741000											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	45					1.99824e-07	2.3018e-07	1	1	0
TTC14	151613	broad.mit.edu	37	3	180321029	180321029	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:180321029C>G	ENST00000412756.2	+	3	473	c.404C>G	c.(403-405)tCt>tGt	p.S135C	TTC14_ENST00000382584.4_Missense_Mutation_p.S135C|TTC14_ENST00000296015.4_Missense_Mutation_p.S135C	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	135	S1 motif.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAATTAGTTCTATTCGGGAA	0.383000													25	125					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008815	120008815	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:120008815G>T	ENST00000371311.3	-	1	964	c.710C>A	c.(709-711)aCa>aAa	p.T237K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	237								p.K235_E243delKLTEEATEE(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ggcctcctctgtgagcttctc	0.701000													81	175					3.05217e-42	5.24476e-42	1	1	0
ASPH	444	broad.mit.edu	37	8	62465664	62465664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:62465664C>A	ENST00000541428.1	-	20	1625	c.1465G>T	c.(1465-1467)Gga>Tga	p.G489*	ASPH_ENST00000379454.4_Nonsense_Mutation_p.G518*	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	518					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CCAGGATCTCCGGATTCTATT	0.393000													72	207					3.13743e-37	5.29229e-37	1	1	0
TMEM74	157753	broad.mit.edu	37	8	109796730	109796730	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:109796730G>T	ENST00000297459.3	-	2	776	c.598C>A	c.(598-600)Cgg>Agg	p.R200R	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	200					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GTCACTTCCCGTGGGACGATG	0.572000													25	72					4.7796e-09	5.68602e-09	1	1	0
SH3RF1	57630	broad.mit.edu	37	4	170037448	170037448	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:170037448G>A	ENST00000284637.9	-	10	2452	c.2111C>T	c.(2110-2112)tCa>tTa	p.S704L	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	704						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTTGGTTGCTGAACTGTTCCC	0.478000													67	23					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847414	47847414	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:47847414C>T	ENST00000339488.4	-	3	1199	c.1166G>A	c.(1165-1167)tGt>tAt	p.C389Y		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	389	SSD.					integral to membrane	hedgehog receptor activity										AAAGACCAGACAGGAGCCAAA	0.453000													10	78					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40085546	40085546	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:40085546T>A	ENST00000302541.6	+	3	458	c.116T>A	c.(115-117)cTg>cAg	p.L39Q	MYRIP_ENST00000425621.1_Missense_Mutation_p.L39Q|MYRIP_ENST00000444716.1_Missense_Mutation_p.L39Q|MYRIP_ENST00000396217.3_5'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	39	RabBD.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCCAGTGAGCTGAAGCAGAAG	0.572000													17	4					0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4446666	4446666	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:4446666G>T	ENST00000301281.6	-	8	875	c.751C>A	c.(751-753)Cag>Aag	p.Q251K	UBXN6_ENST00000394765.3_Missense_Mutation_p.Q198K	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	251						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TCCAGGCTCTGGGGCTGGGCC	0.667000													53	28					5.12918e-33	8.38052e-33	1	1	0
KCNC2	3747	broad.mit.edu	37	12	75601177	75601177	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:75601177G>T	ENST00000549446.1	-	2	1267	c.587C>A	c.(586-588)gCg>gAg	p.A196E	KCNC2_ENST00000298972.1_Missense_Mutation_p.A196E|KCNC2_ENST00000548513.1_Missense_Mutation_p.A196E|KCNC2_ENST00000350228.2_Missense_Mutation_p.A196E|KCNC2_ENST00000341669.3_Missense_Mutation_p.A196E|KCNC2_ENST00000550433.1_Missense_Mutation_p.A196E|KCNC2_ENST00000540018.1_Missense_Mutation_p.A196E|KCNC2_ENST00000393288.2_Missense_Mutation_p.A196E	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	196					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCCGAGCCCCGCCGCGTCCTC	0.716000													9	3					7.48243e-07	8.47538e-07	1	1	0
MEF2C	4208	broad.mit.edu	37	5	88047818	88047818	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:88047818C>A	ENST00000504921.2	-	5	1117	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	MEF2C_ENST00000514028.1_Missense_Mutation_p.V149L|MEF2C_ENST00000437473.2_Missense_Mutation_p.V149L|MEF2C_ENST00000508569.1_Missense_Mutation_p.V149L|MEF2C_ENST00000340208.5_Missense_Mutation_p.V167L|MEF2C_ENST00000424173.2_Missense_Mutation_p.V147L|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Missense_Mutation_p.V149L|MEF2C_ENST00000514015.1_Missense_Mutation_p.V149L|MEF2C_ENST00000510942.1_Missense_Mutation_p.V149L|MEF2C_ENST00000539796.1_Missense_Mutation_p.V101L			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	149	Ser-rich.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGGCTGGACACTGGGATGGAG	0.473000										HNSCC(66;0.2)			32	46					1.08312e-15	1.44849e-15	1	1	0
SLC44A4	80736	broad.mit.edu	37	6	31842568	31842568	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:31842568G>A	ENST00000544672.1	-	6	466	c.170C>T	c.(169-171)tCa>tTa	p.S57L	SLC44A4_ENST00000229729.6_Missense_Mutation_p.S133L|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Intron	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	133						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AACAGTCTGTGAGAACTCGTT	0.517000													30	79					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832619	79832619	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:79832619G>C	ENST00000335016.5	+	16	3084	c.2918G>C	c.(2917-2919)cGc>cCc	p.R973P	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	973						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GTCAAACAGCGCAGCTTACAG	0.473000													26	38					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52635343	52635343	+	Silent	SNP	C	C	A	rs147582503	by1000genomes	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:52635343C>A	ENST00000399231.3	-	31	4254	c.4011G>T	c.(4009-4011)ctG>ctT	p.L1337L	MYO5A_ENST00000399233.2_Silent_p.L1334L|MYO5A_ENST00000358212.6_Silent_p.L1337L|MYO5A_ENST00000356338.6_Intron|MYO5A_ENST00000553916.1_Intron	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1337					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTCATAAACCAGCCACAGCT	0.383000													32	10					2.75727e-19	3.90114e-19	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47311161	47311161	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:47311161G>T	ENST00000426342.1	-	17	2903	c.2157C>A	c.(2155-2157)ctC>ctA	p.L719L	MDGA2_ENST00000439988.2_Silent_p.L948L|MDGA2_ENST00000399222.3_Silent_p.L150L|MDGA2_ENST00000399232.2_Silent_p.L1017L|MDGA2_ENST00000357362.3_Silent_p.L719L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	948					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGATAGAGATGAGGACGATAA	0.383000													15	38					3.41278e-10	4.14523e-10	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	129569176	129569176	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:129569176G>T	ENST00000422113.2	-	6	1841	c.1515C>A	c.(1513-1515)aaC>aaA	p.N505K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.N43K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	505						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTAGGTGAAGTTCACCACCA	0.542000													13	37					1.52009e-12	1.93354e-12	1	1	0
DOCK11	139818	broad.mit.edu	37	X	117814495	117814495	+	Silent	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:117814495T>C	ENST00000276204.6	+	49	5585	c.5511T>C	c.(5509-5511)taT>taC	p.Y1837Y	DOCK11_ENST00000276202.7_Silent_p.Y1837Y			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1837	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAGTTACTTATGTGAAGCCTT	0.284000													55	19					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63029237	63029237	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:63029237G>T	ENST00000561311.1	+	28	3749	c.3519G>T	c.(3517-3519)caG>caT	p.Q1173H	TLN2_ENST00000306829.6_Missense_Mutation_p.Q1173H|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1173	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGGCCAAGCAGGCCCTGATTG	0.557000													19	44					8.34094e-07	9.42049e-07	1	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399787	89399787	+	RNA	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:89399787A>T	ENST00000479981.1	-	0	67																											GAAACAGAGCAGCAGGAGCCC	0.498000													24	103					0	0	1	0	0
KLF7	8609	broad.mit.edu	37	2	207988583	207988583	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:207988583C>A	ENST00000309446.6	-	2	1024	c.648G>T	c.(646-648)aaG>aaT	p.K216N	KLF7_ENST00000467833.1_Intron|KLF7_ENST00000412414.2_Missense_Mutation_p.K188N|KLF7_ENST00000423015.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.K183N	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	216					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		GGTGAACCCTCTTCTTGTTTT	0.557000													97	21					5.25376e-55	9.26227e-55	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46314713	46314713	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:46314713G>T	ENST00000510861.1	-	5	449	c.276C>A	c.(274-276)ttC>ttA	p.F92L	GABRA2_ENST00000381620.4_Missense_Mutation_p.F92L|GABRA2_ENST00000507069.1_Missense_Mutation_p.F92L|GABRA2_ENST00000540012.1_Missense_Mutation_p.F37L|GABRA2_ENST00000515082.1_Missense_Mutation_p.F92L|GABRA2_ENST00000514090.1_Missense_Mutation_p.F92L|GABRA2_ENST00000356504.1_Missense_Mutation_p.F92L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	92					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.F92L(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTGTCGAAAGAAAACATCAA	0.274000													6	18					0.00116845	0.00123235	1	1	0
RBP3	5949	broad.mit.edu	37	10	48390609	48390609	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:48390609G>T	ENST00000224600.4	-	1	382	c.269C>A	c.(268-270)tCc>tAc	p.S90Y		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	90	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCTCATAGGAGATGACCAG	0.622000													94	113					8.2166e-39	1.39655e-38	1	1	0
CD2AP	23607	broad.mit.edu	37	6	47471032	47471032	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:47471032G>A	ENST00000359314.5	+	2	477	c.21G>A	c.(19-21)gaG>gaA	p.E7E		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	7	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATATTGTGGAGTATGACTATG	0.328000													26	99					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52336243	52336243	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:52336243C>A	ENST00000356297.4	-	14	1787	c.1687G>T	c.(1687-1689)Ggc>Tgc	p.G563C	PXDNL_ENST00000543296.1_Missense_Mutation_p.G563C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	563	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTCAGCGTGCCTTCATCATCC	0.458000													8	33					0.0477658	0.0485743	1	1	0
CXorf40A	91966	broad.mit.edu	37	X	148628315	148628315	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:148628315G>T	ENST00000441248.1	+	4	1871	c.284G>T	c.(283-285)tGc>tTc	p.C95F	CXorf40A_ENST00000428236.1_Missense_Mutation_p.C33F|CXorf40A_ENST00000423540.2_Missense_Mutation_p.C95F|CXorf40A_ENST00000422892.2_Missense_Mutation_p.C95F|CXorf40A_ENST00000423421.1_Missense_Mutation_p.C95F|CXorf40A_ENST00000434353.2_Missense_Mutation_p.C95F|CXorf40A_ENST00000450602.2_Missense_Mutation_p.C95F|CXorf40A_ENST00000359293.5_Missense_Mutation_p.C95F|CXorf40A_ENST00000514208.1_Missense_Mutation_p.C95F|CXorf40A_ENST00000393985.3_Missense_Mutation_p.C95F			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	95							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACTTTGCAATGCCCCGAAGAC	0.473000													5	5					3.09899e-07	3.55144e-07	1	1	0
LCT	3938	broad.mit.edu	37	2	136567157	136567157	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:136567157G>A	ENST00000264162.2	-	8	2770	c.2760C>T	c.(2758-2760)ggC>ggT	p.G920G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	920	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATCCCACGCGCCTTCAATCT	0.537000													31	60					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60753811	60753811	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:60753811C>A	ENST00000303375.5	+	11	2155	c.1753C>A	c.(1753-1755)Cag>Aag	p.Q585K		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	585	C-type lectin 3.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GACGGCCCTGCAGGACCTCAA	0.597000													24	81					1.85244e-09	2.22407e-09	1	1	0
C1orf168	199920	broad.mit.edu	37	1	57216869	57216869	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:57216869G>T	ENST00000343433.6	-	9	1315	c.1235C>A	c.(1234-1236)gCc>gAc	p.A412D	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	412										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCCTTCACAGGCATCTACCTA	0.428000													21	23					1.10923e-09	1.33484e-09	1	1	0
OR2D3	120775	broad.mit.edu	37	11	6942933	6942933	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:6942933A>G	ENST00000317834.3	+	1	729	c.701A>G	c.(700-702)tAt>tGt	p.Y234C		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGGTTCTTATTGGAATATT	0.478000													27	6					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35086986	35086986	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:35086986G>A	ENST00000290378.4	-	2	679	c.24C>T	c.(22-24)acC>acT	p.T8T	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	8					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACACCAGGGCGGTGGTCTCCT	0.687000													46	78					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68010019	68010019	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:68010019G>T	ENST00000268793.4	-	9	1655	c.1282C>A	c.(1282-1284)Cgg>Agg	p.R428R		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	403					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTGAAGACCCGCAGCAGGTTT	0.562000													166	61					1.17314e-93	2.1258e-93	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248685809	248685809	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:248685809A>T	ENST00000343414.4	+	1	894	c.862A>T	c.(862-864)Att>Ttt	p.I288F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTAAACCCCATTATCTACAC	0.448000													14	61					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74512979	74512979	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:74512979G>T	ENST00000437994.2	+	24	3346	c.2915G>T	c.(2914-2916)gGc>gTc	p.G972V	CD109_ENST00000474094.1_3'UTR|CD109_ENST00000422508.2_Missense_Mutation_p.G895V|CD109_ENST00000287097.5_Missense_Mutation_p.G972V	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	972						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGAAGATGGCTCTTTCAGT	0.403000													16	42					7.45023e-12	9.3322e-12	1	1	0
TANC1	85461	broad.mit.edu	37	2	160087296	160087296	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:160087296G>C	ENST00000263635.6	+	27	5596	c.5359G>C	c.(5359-5361)Gtt>Ctt	p.V1787L	TANC1_ENST00000454300.1_Missense_Mutation_p.V1681L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1787						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AACCTGTTCTGTTTCTACCCT	0.483000													12	35					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9627713	9627713	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:9627713G>T	ENST00000310430.6	+	26	3864	c.3838G>T	c.(3838-3840)Ggt>Tgt	p.G1280C	TNKS_ENST00000518281.1_Missense_Mutation_p.G1043C	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1280	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTCAGTCATTGGTAGACCGAG	0.468000													13	5					1.5842e-08	1.86897e-08	1	1	0
SEZ6	124925	broad.mit.edu	37	17	27309016	27309016	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:27309016G>A	ENST00000317338.12	-	2	525	c.97C>T	c.(97-99)Cca>Tca	p.P33S	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.P33S|SEZ6_ENST00000360295.9_Missense_Mutation_p.P33S|SEZ6_ENST00000335960.6_Missense_Mutation_p.P33S			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	33						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TCGATGCCTGGGGCTTGTCCT	0.587000													13	40					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296298	20296298	+	Nonsense_Mutation	SNP	G	G	T	rs139512020		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:20296298G>T	ENST00000315947.1	+	1	691	c.691G>T	c.(691-693)Gag>Tag	p.E231*	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCTTCTTCTGAGGCAAAAAA	0.498000													62	18					1.88225e-35	3.14111e-35	1	1	0
OR56A1	120796	broad.mit.edu	37	11	6048641	6048641	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:6048641C>A	ENST00000316650.5	-	1	330	c.294G>T	c.(292-294)tcG>tcT	p.S98S		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S98S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGCTGATCGACCTAAGAT	0.547000													66	21					2.02796e-37	3.42451e-37	1	1	0
NT5M	56953	broad.mit.edu	37	17	17250248	17250248	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:17250248A>G	ENST00000389022.4	+	5	890	c.674A>G	c.(673-675)aAg>aGg	p.K225R	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	225					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CTGGACAGCAAGCGGCCCTGC	0.682000													26	56					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229899	7229899	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:7229899A>T	ENST00000379938.2	+	10	2104	c.1567A>T	c.(1567-1569)Acg>Tcg	p.T523S	RREB1_ENST00000334984.6_Missense_Mutation_p.T523S|RREB1_ENST00000379933.3_Missense_Mutation_p.T523S|RREB1_ENST00000349384.6_Missense_Mutation_p.T523S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCCACCTCCACGCCCCCGCC	0.682000													41	107					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187509954	187509954	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:187509954G>T	ENST00000441802.2	-	27	13768	c.13559C>A	c.(13558-13560)cCg>cAg	p.P4520Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4520					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATACCCTGGCGGGTAAGGGGC	0.532000										HNSCC(5;0.00058)			47	20					7.88023e-25	1.20087e-24	1	1	0
THPO	7066	broad.mit.edu	37	3	184090351	184090351	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:184090351G>A	ENST00000204615.7	-	6	1226	c.1012C>T	c.(1012-1014)Ctt>Ttt	p.L338F	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.L334F|THPO_ENST00000421442.2_3'UTR	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	338					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	p.L338F(1)		NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTTTAGAAGAGGGCTGGTA	0.577000													45	197					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248031279	248031279	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:248031279C>A	ENST00000366481.3	+	5	833	c.785C>A	c.(784-786)aCa>aAa	p.T262K	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	262						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGCTGTCACAAGGCTGGAA	0.517000													22	4					8.10497e-08	9.41262e-08	1	1	0
ABRA	137735	broad.mit.edu	37	8	107773442	107773442	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:107773442G>A	ENST00000311955.3	-	2	1023	c.969C>T	c.(967-969)caC>caT	p.H323H		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	323					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CATCTCGTCTGTGGCGAGCCA	0.468000													5	120					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618831	77618831	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:77618831G>T	ENST00000521891.2	+	2	2956	c.2508G>T	c.(2506-2508)ctG>ctT	p.L836L	ZFHX4_ENST00000518282.1_Silent_p.L836L|ZFHX4_ENST00000050961.6_Silent_p.L836L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.L836L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	836						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAATGAAGCTGGAAAACCCTG	0.552000										HNSCC(33;0.089)			17	6					2.35188e-11	2.92954e-11	1	1	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802610	31802610	+	Missense_Mutation	SNP	G	G	C	rs149557793		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:31802610G>C	ENST00000334068.2	+	1	39	c.17G>C	c.(16-18)tGc>tCc	p.C6S		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	6						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TACAACTGCTGCTCTAGAAAC	0.522000													90	156					0	0	1	0	0
OLR1	4973	broad.mit.edu	37	12	10312547	10312547	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:10312547A>G	ENST00000309539.3	-	6	814	c.754T>C	c.(754-756)Tat>Cat	p.Y252H	OLR1_ENST00000432556.2_3'UTR|OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000544577.1_Missense_Mutation_p.Y144H|OLR1_ENST00000543993.1_3'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	252	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TTTTCCGCATAAACAGCTCCT	0.428000													109	22					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62148677	62148677	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:62148677G>C	ENST00000416284.3	-	3	1819	c.235C>G	c.(235-237)Cga>Gga	p.R79G	FAM19A2_ENST00000551619.1_Missense_Mutation_p.R79G|FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	79						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGAGCAGCTCGCGTGGTGCCT	0.502000													12	38					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605042	140605042	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140605042C>T	ENST00000239449.4	+	1	1965	c.1965C>T	c.(1963-1965)acC>acT	p.T655T	PCDHB14_ENST00000515856.2_Silent_p.T502T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		655	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGCCACCGCCACGCTGC	0.726000													29	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575824	179575824	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179575824C>A	ENST00000589042.1	-	97	28363	c.28139G>T	c.(28138-28140)gGc>gTc	p.G9380V	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8136V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9063V|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9063	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAGCAGAGCCTATAGGGTT	0.383000													49	63					1.21353e-23	1.83321e-23	1	1	0
PIP	5304	broad.mit.edu	37	7	142829225	142829225	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142829225C>G	ENST00000291009.3	+	1	56	c.16C>G	c.(16-18)Ctc>Gtc	p.L6V		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	6						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CTTGCTCCAGCTCCTGTTCAG	0.557000													132	382					0	0	1	0	0
PDZK1	5174	broad.mit.edu	37	1	145761321	145761321	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:145761321C>A	ENST00000344770.2	+	7	1207	c.1134C>A	c.(1132-1134)ctC>ctA	p.L378L	PDZK1_ENST00000451928.2_Silent_p.L267L|PDZK1_ENST00000417171.1_Silent_p.L378L	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	378	PDZ 4.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AGCCTAAACTCTGCAGGCTGG	0.483000													17	113					5.35356e-11	6.61048e-11	1	1	0
TMEM176B	28959	broad.mit.edu	37	7	150490205	150490205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:150490205C>A	ENST00000447204.2	-	5	943	c.571G>T	c.(571-573)Gag>Tag	p.E191*	TMEM176B_ENST00000429904.2_Nonsense_Mutation_p.E191*|TMEM176B_ENST00000492607.1_Nonsense_Mutation_p.E191*|TMEM176B_ENST00000434545.1_Nonsense_Mutation_p.E191*|TMEM176B_ENST00000326442.5_Nonsense_Mutation_p.E191*|TMEM176B_ENST00000450753.2_Nonsense_Mutation_p.E154*	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	191					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCTACACTCCTCCTTCTGC	0.542000													45	37					4.44401e-20	6.39185e-20	1	1	0
CYB5R4	51167	broad.mit.edu	37	6	84644422	84644422	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:84644422G>T	ENST00000369681.4	+	11	1063	c.923G>T	c.(922-924)gGg>gTg	p.G308V	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	308	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GTGCCCATTGGGCAACATGTT	0.393000													4	41					0.00116845	0.00123235	1	1	0
TRIM58	25893	broad.mit.edu	37	1	248031156	248031156	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:248031156G>A	ENST00000366481.3	+	4	805	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	253						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGTGTGAGAGGAGTCCTGAG	0.468000													35	28					0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5018648	5018648	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:5018648G>A	ENST00000307746.4	-	3	268	c.242C>T	c.(241-243)cCc>cTc	p.P81L		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	81					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCAACACGGGGGCGAGGCCAC	0.547000													44	24					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722323	53722323	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:53722323G>A	ENST00000536324.2	-	3	1186	c.903C>T	c.(901-903)tgC>tgT	p.C301C	SP7_ENST00000303846.3_Silent_p.C301C|SP7_ENST00000537210.2_Silent_p.C283C	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						ACACCTTGCCGCAGCCAGGGA	0.642000													41	9					0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64872726	64872726	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:64872726G>A	ENST00000261308.5	+	6	1062	c.990G>A	c.(988-990)caG>caA	p.Q330Q	PPWD1_ENST00000538977.1_Silent_p.Q174Q|PPWD1_ENST00000535264.1_Silent_p.Q300Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	330					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AACTGCAACAGATGAGGCAAC	0.343000													28	68					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28651951	28651951	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:28651951T>A	ENST00000328886.4	-	4	595	c.523A>T	c.(523-525)Agt>Tgt	p.S175C	TMIGD1_ENST00000538566.2_Missense_Mutation_p.S175C	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	175	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						AAAGACTCACTTGTCTGTTGG	0.448000													50	126					0	0	1	0	0
EDA2R	60401	broad.mit.edu	37	X	65819381	65819381	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:65819381T>C	ENST00000374719.3	-	6	895	c.839A>G	c.(838-840)gAa>gGa	p.E280G	EDA2R_ENST00000253392.5_Missense_Mutation_p.E301G|EDA2R_ENST00000396050.1_Missense_Mutation_p.E280G|EDA2R_ENST00000451436.2_Missense_Mutation_p.E156G|EDA2R_ENST00000456230.2_Missense_Mutation_p.E280G|EDA2R_ENST00000450752.1_Missense_Mutation_p.E301G	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	280					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAGTGCTTTCGACTGTGTT	0.507000													10	1					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459780	141459780	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:141459780C>T	ENST00000389484.3	-	39	7203	c.6232G>A	c.(6232-6234)Gtg>Atg	p.V2078M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2078					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTGACAGCACCATCTCGCGA	0.403000										TSP Lung(27;0.18)			29	153					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31348318	31348318	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:31348318G>T	ENST00000225823.2	-	7	2232	c.1360C>A	c.(1360-1362)Ctt>Att	p.L454I	ASIC2_ENST00000359872.6_Missense_Mutation_p.L403I	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	403					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TCCAGAACAAGGATGTTCTCT	0.408000													13	29					0.000219431	0.000235245	1	1	0
TTC40	54777	broad.mit.edu	37	10	134664699	134664699	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:134664699C>A	ENST00000368586.5	-	40	5785	c.5685G>T	c.(5683-5685)caG>caT	p.Q1895H	TTC40_ENST00000263170.5_Missense_Mutation_p.Q56H	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	56										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCTCACTCTGCTGCCCGTGGG	0.602000													36	74					1.26612e-14	1.66611e-14	1	1	0
RPA4	29935	broad.mit.edu	37	X	96139985	96139985	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:96139985C>G	ENST00000373040.3	+	1	1079	c.676C>G	c.(676-678)Cag>Gag	p.Q226E	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	226					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GCTCCGGGCTCAGCTCTGCGA	0.512000								Other identified genes with known or suspected DNA repair function					42	21					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493036	102493036	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:102493036G>A	ENST00000360184.4	+	44	8927	c.8763G>A	c.(8761-8763)agG>agA	p.R2921R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2921	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACGTGCTGAGGATTGACAGGT	0.483000													28	3					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24726369	24726369	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:24726369C>T	ENST00000314328.9	+	8	2651	c.2366C>T	c.(2365-2367)aCa>aTa	p.T789I	SPECC1L_ENST00000437398.1_Missense_Mutation_p.T789I|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.T789I|SPECC1L_ENST00000541492.1_Missense_Mutation_p.T789I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	789					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GAGAAACTCACAAAAGAATTG	0.378000													31	175					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31341764	31341764	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:31341764C>T	ENST00000357033.4	-	62	9381	c.9175G>A	c.(9175-9177)Ggt>Agt	p.G3059S	DMD_ENST00000378707.3_Missense_Mutation_p.G599S|DMD_ENST00000541735.1_Missense_Mutation_p.G599S|DMD_ENST00000359836.1_Missense_Mutation_p.G599S|DMD_ENST00000474231.1_Missense_Mutation_p.G599S|DMD_ENST00000343523.2_Missense_Mutation_p.G599S|DMD_ENST00000378677.2_Missense_Mutation_p.G3055S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3059	Interaction with SYNM (By similarity).|WW.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCCAGGGACCCTGGACAGAC	0.403000													5	7					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746474	77746474	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:77746474A>T	ENST00000409088.3	-	3	935	c.521T>A	c.(520-522)aTa>aAa	p.I174K	LRRTM4_ENST00000409282.1_Missense_Mutation_p.I175K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.I174K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.I175K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.I174K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	174						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAAAACTCTTATGGGCACAGT	0.393000													20	60					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442166	89442166	+	RNA	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:89442166G>C	ENST00000492167.1	-	0	290																											GAACCTGTCTGGGATGCCAGT	0.547000													22	89					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756681	32756681	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:32756681C>G	ENST00000249007.4	+	2	1021	c.816C>G	c.(814-816)agC>agG	p.S272R	RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.S243R|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000461833.1_5'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.S243R	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	272	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CATTCAGGAGCGTCTCTGCTG	0.478000													24	98					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752001	62752001	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:62752001C>A	ENST00000331425.6	-	0	1434					NR_003952.1																						GGTTTCTCTCCAGTATGAATT	0.398000													20	6					3.28513e-13	4.22335e-13	1	1	0
GTF2F1	2962	broad.mit.edu	37	19	6380976	6380976	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:6380976G>A	ENST00000394456.5	-	11	1634	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P	GTF2F1_ENST00000429701.2_Silent_p.P305P	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	390					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CCTCTGCGCTGGGCGTGCCTG	0.687000													3	9					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233214	28233214	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:28233214C>T	ENST00000305242.5	-	12	1772	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A	ARMC4_ENST00000537576.1_Silent_p.A252A|ARMC4_ENST00000545014.1_Silent_p.A85A	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	560							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGGCAACATTCGCGATAGTCT	0.478000													5	63					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157738210	157738210	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:157738210C>T	ENST00000361516.3	-	5	925	c.877G>A	c.(877-879)Gtg>Atg	p.V293M	FCRL2_ENST00000392274.3_Missense_Mutation_p.V293M|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	293					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCACTTCTCACAGGGATATTC	0.488000													131	114					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118375889	118375889	+	Silent	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:118375889C>G	ENST00000534358.1	+	27	9305	c.9282C>G	c.(9280-9282)ctC>ctG	p.L3094L	KMT2A_ENST00000389506.5_Silent_p.L3091L|KMT2A_ENST00000354520.4_Silent_p.L3053L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TTTATGTTCTCCAAACTCTTC	0.453000													247	35					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747164	158747164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158747164C>A	ENST00000339258.1	-	1	261	c.262G>T	c.(262-264)Gag>Tag	p.E88*		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GTTTTCTTCTCACTGAGAATA	0.443000													184	176					1.23754e-74	2.22189e-74	1	1	0
LCOR	84458	broad.mit.edu	37	10	98715390	98715390	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:98715390A>C	ENST00000540664.1	+	8	1556	c.1013A>C	c.(1012-1014)cAg>cCg	p.Q338P	LCOR_ENST00000356016.3_Missense_Mutation_p.Q338P|LCOR_ENST00000371097.4_Missense_Mutation_p.Q338P|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.Q338P	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GGCTCCAAGCAGCCTCGGAAG	0.498000													13	38					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157817719	157817719	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:157817719G>T	ENST00000490689.2	-	4	1778	c.245C>A	c.(244-246)gCc>gAc	p.A82D	SHOX2_ENST00000389589.4_Missense_Mutation_p.A235D|SHOX2_ENST00000483851.2_Missense_Mutation_p.A211D|SHOX2_ENST00000441443.2_Missense_Mutation_p.A82D|SHOX2_ENST00000425436.3_Missense_Mutation_p.A211D			O60902	SHOX2_HUMAN	short stature homeobox 2	211	Poly-Gly.				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAACTGGCTGGCGGCCCCTAT	0.433000													25	2					4.87955e-14	6.38347e-14	1	1	0
HIST1H4L	8368	broad.mit.edu	37	6	27841180	27841180	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:27841180G>A	ENST00000355981.2	-	1	109	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	37					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						CGTGCCAGGCGTCGGATGGCG	0.587000													6	107					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72191154	72191154	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:72191154T>A	ENST00000356056.5	-	25	4162	c.3690A>T	c.(3688-3690)tcA>tcT	p.S1230S	MYO9A_ENST00000564571.1_Silent_p.S1230S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.S1230S|MYO9A_ENST00000444904.1_Silent_p.S1211S|MYO9A_ENST00000566885.1_Silent_p.S850S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1230	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTTGTTTGGTGACTCCTTCA	0.453000													150	27					0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28996173	28996173	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:28996173G>T	ENST00000322982.3	-	0	1761							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GGCAGCGACGGAGGGGCTGGG	0.761000													12	28					0.00400662	0.0041639	1	1	0
ATXN1	6310	broad.mit.edu	37	6	16327489	16327489	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:16327489C>A	ENST00000244769.4	-	8	1989	c.1053G>T	c.(1051-1053)tcG>tcT	p.S351S	ATXN1_ENST00000436367.1_Silent_p.S351S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	351					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGTGAGGAACCGACTTGCCGC	0.672000													69	139					4.83814e-26	7.44549e-26	1	1	0
CELP	1057	broad.mit.edu	37	9	135962379	135962379	+	RNA	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:135962379G>C	ENST00000411440.2	+	0	886					NR_001275.2																						CCCTCCACAGGGGACTCTGAG	0.647000													6	8					0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48906501	48906501	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:48906501C>A	ENST00000508632.1	-	2	298	c.66_splice	c.e2+1	p.Q22_splice	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Splice_Site_p.Q22_splice	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	22	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AAAAGTATACCTGCTTGCTTG	0.458000													24	78					6.32553e-13	8.1054e-13	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61510928	61510928	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:61510928C>G	ENST00000266070.4	-	16	6705	c.6380G>C	c.(6379-6381)cGg>cCg	p.R2127P	DIDO1_ENST00000395343.1_Missense_Mutation_p.R2127P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2127	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					gtcccagtcccgctctcggct	0.721000													69	25					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731096	185731096	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:185731096G>T	ENST00000302277.6	+	2	706	c.111_splice	c.e2-1	p.D38_splice		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	38						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TATTTTTCAGGACTATGCTGA	0.358000													11	21					0.0135373	0.0138657	1	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044187	90044187	+	RNA	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:90044187A>G	ENST00000462693.1	+	0	138																											TCACCCTTGGACAGCCGGCCT	0.512000													41	177					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455204	84455204	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:84455204G>T	ENST00000377084.2	-	1	1324	c.439C>A	c.(439-441)Ccg>Acg	p.P147T		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	147						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAGGCCCCCGGGTCTATATCT	0.458000													43	18					1.63429e-32	2.6619e-32	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107460190	107460190	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:107460190G>A	ENST00000409382.3	-	2	854	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R82C|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R82C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	82					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGGTGGGCGCGGGGCAGCGCC	0.657000													17	108					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487188	131487188	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:131487188G>T	ENST00000309926.4	+	1	546	c.464G>T	c.(463-465)cGc>cTc	p.R155L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	155				R -> G (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATCCACTGCGCTACCTCTCC	0.592000													28	36					1.39806e-14	1.83818e-14	1	1	0
PCSK1	5122	broad.mit.edu	37	5	95746615	95746615	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:95746615C>A	ENST00000311106.3	-	8	1195	c.958G>T	c.(958-960)Gat>Tat	p.D320Y	PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Missense_Mutation_p.D273Y|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	320	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGTAGCCATCACAGTCACAA	0.562000													91	153					3.93621e-41	6.73424e-41	1	1	0
RTTN	25914	broad.mit.edu	37	18	67809568	67809568	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:67809568A>T	ENST00000255674.6	-	19	2823	c.2537T>A	c.(2536-2538)gTt>gAt	p.V846D	RTTN_ENST00000437017.1_Missense_Mutation_p.V846D|RTTN_ENST00000454359.1_Missense_Mutation_p.V846D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	846							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTTCTCAAAACGAGATCAAC	0.328000													12	32					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166900420	166900420	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:166900420T>C	ENST00000423058.2	-	11	1819	c.1802A>G	c.(1801-1803)aAc>aGc	p.N601S	SCN1A_ENST00000375405.3_Missense_Mutation_p.N601S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N601S|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N601S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	601						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACGGCTCTCGTTATCCTCAAA	0.527000													34	89					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116257116	116257116	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:116257116G>C	ENST00000410059.1	+	4	782	c.302G>C	c.(301-303)gGa>gCa	p.G101A	DPP10_ENST00000393147.2_Missense_Mutation_p.G105A|DPP10_ENST00000409163.1_Missense_Mutation_p.G51A|DPP10_ENST00000310323.8_Missense_Mutation_p.G94A|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	101					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCGAGAATGGACATGTCATT	0.294000													13	52					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181705535	181705535	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:181705535C>T	ENST00000526775.1	+	21	3495	c.3330C>T	c.(3328-3330)ccC>ccT	p.P1110P	CACNA1E_ENST00000367570.1_Silent_p.P1129P|CACNA1E_ENST00000367573.2_Silent_p.P1129P|CACNA1E_ENST00000367567.4_Silent_p.P736P|CACNA1E_ENST00000357570.5_Silent_p.P1080P|CACNA1E_ENST00000358338.5_Silent_p.P1061P|CACNA1E_ENST00000360108.3_Silent_p.P1110P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1129					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCATGGTGCCCCACAGCTCAA	0.562000													7	4					0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528434	77528434	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:77528434G>T	ENST00000373304.3	-	3	1102	c.810C>A	c.(808-810)gtC>gtA	p.V270V		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	270					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GCATTCTAAGGACAGAATCAC	0.413000													30	62					3.80469e-20	5.48241e-20	1	1	0
UBAC1	10422	broad.mit.edu	37	9	138837785	138837785	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:138837785C>A	ENST00000371756.3	-	6	820	c.603G>T	c.(601-603)acG>acT	p.T201T		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	201	UBA 1.					Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		AGCCCATCTCCGTGAGCTGCC	0.657000													36	13					1.57019e-19	2.22967e-19	1	1	0
MVK	4598	broad.mit.edu	37	12	110034366	110034366	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:110034366C>G	ENST00000228510.3	+	11	1251	c.1175C>G	c.(1174-1176)gCc>gGc	p.A392G	MVK_ENST00000541384.1_Missense_Mutation_p.A198G|MVK_ENST00000392727.3_Missense_Mutation_p.A340G|MVK_ENST00000539696.1_Missense_Mutation_p.A111G|MVK_ENST00000539575.1_Missense_Mutation_p.A340G	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	392					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GTCCAGCAAGCCCTGGATGGC	0.632000													40	11					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148496380	148496380	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:148496380G>C	ENST00000325222.4	+	21	2429	c.2150G>C	c.(2149-2151)aGa>aCa	p.R717T	CUL1_ENST00000602748.1_Missense_Mutation_p.R717T|CUL1_ENST00000409469.1_Missense_Mutation_p.R717T	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	717					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCATCGTGAGAATCATGAAG	0.473000													14	41					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775256	47775256	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:47775256A>T	ENST00000376954.1	+	6	1579	c.1211A>T	c.(1210-1212)cAt>cTt	p.H404L	ZNF81_ENST00000338637.7_Missense_Mutation_p.H404L			P51508	ZNF81_HUMAN	zinc finger protein 81	404						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CTCAATATACATCAGAAAATT	0.418000													34	8					0	0	1	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334243	39334243	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:39334243G>T	ENST00000377726.2	-	1	217	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	58	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGCAGCAGGTGGGCTGGCAGC	0.672000													73	54					1.64915e-30	2.65018e-30	1	1	0
ACAT1	38	broad.mit.edu	37	11	108002667	108002667	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:108002667A>C	ENST00000265838.4	+	2	197	c.106A>C	c.(106-108)Aaa>Caa	p.K36Q	ACAT1_ENST00000299355.6_Missense_Mutation_p.K36Q|ACAT1_ENST00000526119.1_3'UTR	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	36					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TTATGTATCAAAACCCACTTT	0.224000													20	86					0	0	1	0	0
ZBTB47	92999	broad.mit.edu	37	3	42701285	42701285	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:42701285C>T	ENST00000457842.3	+	2	1719	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	ZBTB47_ENST00000505904.1_Silent_p.L26L|ZBTB47_ENST00000232974.6_Silent_p.L480L	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CGAGCTGCTGCTGCACAGGCA	0.632000													19	7					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145537214	145537214	+	Silent	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:145537214T>C	ENST00000369304.3	+	19	2560	c.2385T>C	c.(2383-2385)tgT>tgC	p.C795C	ITGA10_ENST00000539363.1_Silent_p.C652C|ITGA10_ENST00000538811.1_Silent_p.C664C	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	795					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAATGAATGTGTCACAGACC	0.502000													60	66					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202275999	202275999	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:202275999C>T	ENST00000367278.3	+	13	1229	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Silent_p.G241G|LGR6_ENST00000255432.7_Silent_p.G328G	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	380						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCCTAGCGGCCTCCAACACA	0.632000													23	22					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641898	57641898	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:57641898C>A	ENST00000254181.4	+	4	2309	c.1855C>A	c.(1855-1857)Cag>Aag	p.Q619K	USP29_ENST00000598197.1_Missense_Mutation_p.Q619K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	619					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGCAGCATCAGAGAGACCT	0.488000													37	3					2.87052e-16	3.87533e-16	1	1	0
KRT76	51350	broad.mit.edu	37	12	53164974	53164974	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:53164974C>A	ENST00000332411.2	-	7	1346	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	431	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGCTCAGCCTCTGCAATTG	0.517000													26	42					4.59853e-10	5.56383e-10	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8485265	8485265	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:8485265C>G	ENST00000381196.4	-	26	3658	c.3115G>C	c.(3115-3117)Gag>Cag	p.E1039Q	PTPRD_ENST00000486161.1_Missense_Mutation_p.E628Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1039Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.E628Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.E618Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.E625Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.E618Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1039Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1026Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.E625Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1017Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1039	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E1039K(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGGAATCTCCCAAGACAGC	0.353000										TSP Lung(15;0.13)			17	50					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128707	161128707	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:161128707A>T	ENST00000523217.1	+	9	1502	c.1260A>T	c.(1258-1260)gcA>gcT	p.A420A	GABRA6_ENST00000274545.5_Silent_p.A430A	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	430					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGCATTTGCAGGATTCAACC	0.453000										TCGA Ovarian(5;0.080)			16	44					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44469165	44469165	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:44469165C>A	ENST00000251269.5	+	4	473	c.145C>A	c.(145-147)Cct>Act	p.P49T	ZNF221_ENST00000592350.1_Missense_Mutation_p.P49T|ZNF221_ENST00000587682.1_Missense_Mutation_p.P49T	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GCTGCTGGACCCTGCCCAGAG	0.502000													252	43					1.39903e-125	2.54695e-125	1	1	0
SOGA2	23255	broad.mit.edu	37	18	8825213	8825213	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:8825213C>T	ENST00000359865.3	+	15	3847	c.3705C>T	c.(3703-3705)ctC>ctT	p.L1235L	SOGA2_ENST00000306285.7_Silent_p.L560L|SOGA2_ENST00000518815.1_Silent_p.L560L|SOGA2_ENST00000400050.3_Silent_p.L1194L|SOGA2_ENST00000517570.1_Silent_p.L1194L|SOGA2_ENST00000306329.11_Silent_p.L1554L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1545																	AACCCATGCTCAGCAGGTGGC	0.662000													18	104					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172573920	172573920	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:172573920A>T	ENST00000231668.9	+	2	240	c.136A>T	c.(136-138)Aaa>Taa	p.K46*	BNIP1_ENST00000351486.5_Nonsense_Mutation_p.K46*|BNIP1_ENST00000393770.4_Nonsense_Mutation_p.K46*|BNIP1_ENST00000352523.6_Nonsense_Mutation_p.K46*	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	46					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTGAATACTAAAGTAAAAGA	0.418000													18	39					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874013	23874013	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:23874013C>A	ENST00000405093.3	-	7	619	c.549G>T	c.(547-549)ggG>ggT	p.G183G	MYH6_ENST00000356287.3_Silent_p.G183G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	183	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACAGTCTTCCCCGCCCCGG	0.547000													26	61					9.39395e-14	1.22278e-13	1	1	0
OR52I1	390037	broad.mit.edu	37	11	4615430	4615430	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:4615430G>C	ENST00000450052.2	+	2	234	c.234G>C	c.(232-234)tgG>tgC	p.W78C	OR52I1_ENST00000530443.2_Missense_Mutation_p.W54C			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGCAATCTGGATGGATTCCA	0.512000													24	112					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33359933	33359933	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:33359933C>A	ENST00000404816.2	+	5	1460	c.1107C>A	c.(1105-1107)agC>agA	p.S369R	LTBP1_ENST00000354476.3_Missense_Mutation_p.S369R|LTBP1_ENST00000407925.1_Missense_Mutation_p.S43R|LTBP1_ENST00000390003.4_Missense_Mutation_p.S43R|LTBP1_ENST00000402934.1_Missense_Mutation_p.S43R|LTBP1_ENST00000418533.2_Missense_Mutation_p.S43R|LTBP1_ENST00000404525.1_Missense_Mutation_p.S43R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	369					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCAAGGGCAGCTGTCAGAACA	0.547000													43	44					1.57019e-19	2.22967e-19	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73849081	73849081	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:73849081G>C	ENST00000523207.1	+	3	2079	c.1491G>C	c.(1489-1491)aaG>aaC	p.K497N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	497					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGGCCAGGAAGGCTCTGTCGG	0.537000													74	90					0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32906656	32906656	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:32906656T>A	ENST00000416244.2	-	2	336	c.142A>T	c.(142-144)Aag>Tag	p.K48*	XXbac-BPG181M17.5_ENST00000429234.1_Nonsense_Mutation_p.K80*|HLA-DMB_ENST00000418107.2_Nonsense_Mutation_p.K48*			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	48	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGCAGATCCTTGTTGAAGGAG	0.527000													4	160					0	0	1	0	0
TMEM87B	84910	broad.mit.edu	37	2	112856252	112856252	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:112856252G>T	ENST00000283206.4	+	14	1722	c.1353G>T	c.(1351-1353)tgG>tgT	p.W451C	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	451						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TGTTTTTGTGGAGACCATCAG	0.378000													19	50					5.35267e-07	6.10282e-07	1	1	0
ZNF592	9640	broad.mit.edu	37	15	85341820	85341820	+	Splice_Site	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:85341820G>A	ENST00000299927.3	+	5	2760	c.2736_splice	c.e5-1	p.S913_splice	ZNF592_ENST00000560079.2_Splice_Site_p.S913_splice			Q92610	ZN592_HUMAN	zinc finger protein 592	913					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CATCCCCAGAGCACCCACGGT	0.627000													16	58					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21788238	21788238	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:21788238G>C	ENST00000328843.6	+	53	8603	c.8572G>C	c.(8572-8574)Gct>Cct	p.A2858P	DNAH11_ENST00000409508.3_Missense_Mutation_p.A2851P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2858	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGGGCTGTGCTCTCTTGGT	0.562000									Kartagener syndrome				18	68					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152086473	152086473	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152086473T>A	ENST00000368804.1	-	1	83	c.84A>T	c.(82-84)ttA>ttT	p.L28F		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	28	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTCTTAGTTAATGCTGCTC	0.388000													112	93					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440538	124440538	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:124440538C>A	ENST00000284287.3	+	1	646	c.574C>A	c.(574-576)Cac>Aac	p.H192N		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCTCATCAGTCACTACTTCTG	0.488000													24	94					1.26454e-06	1.42409e-06	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100552605	100552605	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:100552605C>A	ENST00000319509.7	+	1	1356	c.1356C>A	c.(1354-1356)ctC>ctA	p.L452L						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCAGTAGCCTCCCGACCATCC	0.582000													62	152					3.25985e-27	5.0868e-27	1	1	0
SLC18A3	6572	broad.mit.edu	37	10	50819892	50819892	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:50819892C>A	ENST00000374115.3	+	1	1546	c.1106C>A	c.(1105-1107)gCc>gAc	p.A369D	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	369					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GTGATCGGCGCCAGCTCGTGC	0.667000													26	66					2.41591e-17	3.30732e-17	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49670706	49670706	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:49670706C>A	ENST00000561648.1	-	4	2410	c.2357G>T	c.(2356-2358)tGt>tTt	p.C786F	ZNF423_ENST00000262383.2_Missense_Mutation_p.C786F|ZNF423_ENST00000567169.1_Missense_Mutation_p.C669F|ZNF423_ENST00000535559.1_Missense_Mutation_p.C669F|ZNF423_ENST00000563137.2_Missense_Mutation_p.C726F|ZNF423_ENST00000562871.1_Missense_Mutation_p.C726F|ZNF423_ENST00000562520.1_Missense_Mutation_p.C726F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	786					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCTCCCCACAGAAGATGCA	0.582000													40	9					1.15505e-17	1.58959e-17	1	1	0
RYR3	6263	broad.mit.edu	37	15	33944944	33944944	+	Missense_Mutation	SNP	G	G	T	rs138445751	by1000genomes	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:33944944G>T	ENST00000389232.4	+	32	4238	c.4168G>T	c.(4168-4170)Gtc>Ttc	p.V1390F	RYR3_ENST00000415757.3_Missense_Mutation_p.V1390F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1390	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCTACATGGTCTGGGGTGG	0.512000													29	9					2.4375e-19	3.45183e-19	1	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49791063	49791063	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:49791063G>T	ENST00000249601.4	-	2	465	c.169C>A	c.(169-171)Cgc>Agc	p.R57S	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63S|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57S	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	57	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAAACCAGCGCTGCTGCCAG	0.612000													68	266					2.81305e-35	4.68942e-35	1	1	0
CACNG6	59285	broad.mit.edu	37	19	54501559	54501559	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:54501559C>A	ENST00000252729.2	+	2	988	c.398C>A	c.(397-399)aCa>aAa	p.T133K	CACNG6_ENST00000346968.2_Missense_Mutation_p.T133K|CACNG6_ENST00000352529.1_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	133						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CAGAGAACCACAAAGAAAGGT	0.502000													31	8					1.30897e-18	1.82718e-18	1	1	0
FCRL1	115350	broad.mit.edu	37	1	157771875	157771875	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:157771875A>T	ENST00000358292.3	-	5	767	c.716T>A	c.(715-717)cTg>cAg	p.L239Q	FCRL1_ENST00000491942.1_Missense_Mutation_p.L239Q|FCRL1_ENST00000368176.3_Missense_Mutation_p.L239Q|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	239	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AAACCAGTACAGGATCGGAGG	0.592000													61	76					0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	96012782	96012782	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:96012782C>A	ENST00000468529.1	+	1	307	c.15C>A	c.(13-15)ggC>ggA	p.G5G	KCNIP3_ENST00000295225.5_Intron|KCNIP3_ENST00000360990.3_Intron|KCNIP3_ENST00000377181.2_Intron	NM_001034914.1	NP_001030086.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	0					apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		GCATCCAGGGCATGGAGCTGT	0.711000													9	22					1.08611e-07	1.2576e-07	1	1	0
MGAM	8972	broad.mit.edu	37	7	141734585	141734585	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:141734585G>T	ENST00000475668.2	+	16	1957	c.1903G>T	c.(1903-1905)Gac>Tac	p.D635Y	MGAM_ENST00000549489.2_Missense_Mutation_p.D635Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	635	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACCTGGGATGACCTGAGATG	0.507000													32	30					1.99505e-19	2.8304e-19	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18280232	18280232	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:18280232G>T	ENST00000377369.2	+	8	1695	c.1422_splice	c.e8+1	p.K474_splice	SLC39A12_ENST00000539911.1_Splice_Site_p.K340_splice|SLC39A12_ENST00000377371.3_Splice_Site_p.K474_splice|SLC39A12_ENST00000377374.4_Splice_Site_p.K474_splice	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	474					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAAATGACAAGGTATATTTTT	0.313000													10	57					0.00621372	0.00642344	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7679258	7679258	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:7679258C>T	ENST00000256861.6	-	5	663	c.585G>A	c.(583-585)gcG>gcA	p.A195A	ITIH5_ENST00000397145.2_Silent_p.A195A|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.A195A|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	195					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGCGATGCCCGCGCTCTCCA	0.657000													48	160					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270349	18270349	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:18270349C>G	ENST00000377369.2	+	6	1306	c.1033C>G	c.(1033-1035)Ctc>Gtc	p.L345V	SLC39A12_ENST00000539911.1_Missense_Mutation_p.L211V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L345V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L345V	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	345					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCAGCAGCTCCTCAGCTGCTC	0.502000													15	57					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186551728	186551728	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:186551728C>T	ENST00000431808.1	-	12	1272	c.709G>A	c.(709-711)Gac>Aac	p.D237N	SORBS2_ENST00000449407.2_Missense_Mutation_p.D308N|SORBS2_ENST00000393528.3_Missense_Mutation_p.D330N|SORBS2_ENST00000355634.5_Missense_Mutation_p.D337N|SORBS2_ENST00000437304.2_Missense_Mutation_p.D488N|SORBS2_ENST00000319471.9_Missense_Mutation_p.D395N|SORBS2_ENST00000284776.7_Missense_Mutation_p.D237N|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.D141N|SORBS2_ENST00000448662.2_Missense_Mutation_p.D325N			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	237						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGGCTTCTGTCTATAGAGGAC	0.333000													7	11					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152517526	152517526	+	Splice_Site	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:152517526A>T	ENST00000256001.8	+	7	817	c.684_splice	c.e7+1	p.K228_splice	ACTR3B_ENST00000377776.3_Splice_Site_p.K228_splice|ACTR3B_ENST00000537264.1_Splice_Site_p.K140_splice|ACTR3B_ENST00000397282.2_Splice_Site_p.K140_splice	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	228					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		AAAGCCATTAAGGTAAAAACA	0.512000													4	11					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676215	11676215	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:11676215G>T	ENST00000423059.3	-	2	815	c.564C>A	c.(562-564)ctC>ctA	p.L188L		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	188						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCAAGGAATGAGGCAAGCCT	0.552000										HNSCC(18;0.044)			20	72					1.15919e-05	1.28052e-05	1	1	0
SLC22A8	9376	broad.mit.edu	37	11	62763623	62763623	+	Splice_Site	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:62763623A>C	ENST00000336232.2	-	6	898	c.761_splice	c.e6-1	p.W255_splice	SLC22A8_ENST00000545207.1_Splice_Site_p.W164_splice|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Splice_Site_p.W255_splice|SLC22A8_ENST00000535878.1_Splice_Site_p.W132_splice|SLC22A8_ENST00000430500.2_Splice_Site_p.W255_splice	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	255					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCTGGTGTCCACCTGGGGGCC	0.582000													22	49					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122674805	122674805	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:122674805C>T	ENST00000339777.4	+	5	819	c.791C>T	c.(790-792)cCc>cTc	p.P264L	LRRC43_ENST00000425921.1_Missense_Mutation_p.P79L	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	264	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCTTGGTGCCCTACTACCGC	0.632000													89	23					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38925321	38925321	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:38925321C>T	ENST00000335552.4	-	6	1045	c.997G>A	c.(997-999)Gag>Aag	p.E333K		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	333	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCTTCAGTCTCAGCCAAGGAG	0.383000													8	41					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149292	34149292	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:34149292C>A	ENST00000346193.3	-	1	1155	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	368										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCGACGAGTCTTGGGAGGCG	0.637000													60	18					1.3268e-25	2.03183e-25	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22881368	22881368	+	Silent	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:22881368T>G	ENST00000400546.1	+	16	2523	c.2274T>G	c.(2272-2274)gcT>gcG	p.A758A	NCAM2_ENST00000284894.7_Silent_p.A616A	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	758					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.A758A(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGGAAAAGCTGCATACCTGT	0.453000													44	56					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135490868	135490868	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:135490868C>A	ENST00000520727.1	-	17	3852	c.3553G>T	c.(3553-3555)Gtg>Ttg	p.V1185L	ZFAT_ENST00000377838.3_Missense_Mutation_p.V1197L|ZFAT_ENST00000520356.1_Missense_Mutation_p.V1099L|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1185L|ZFAT_ENST00000429442.2_Missense_Mutation_p.G1148V|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1135L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCGGAGGACACCACCAGGTGG	0.647000													4	8					0.00909568	0.00933473	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90857610	90857610	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:90857610G>C	ENST00000394980.1	+	7	3098	c.2779G>C	c.(2779-2781)Gtt>Ctt	p.V927L	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.V927L|MMRN1_ENST00000508372.1_Missense_Mutation_p.V669L			Q13201	MMRN1_HUMAN	multimerin 1	927					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCTCCACGAAGTTTTAACAAT	0.363000													15	29					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276807	114276807	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:114276807G>A	ENST00000357077.4	+	38	7086	c.7033G>A	c.(7033-7035)Gag>Aag	p.E2345K	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2312K|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2312					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGACTGACTGAGGAGGCAGC	0.488000													19	23					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31429589	31429589	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:31429589T>A	ENST00000511367.2	-	26	3453	c.3209A>T	c.(3208-3210)aAt>aTt	p.N1070I	DROSHA_ENST00000344624.3_Missense_Mutation_p.N1070I|DROSHA_ENST00000513349.1_Missense_Mutation_p.N1033I|DROSHA_ENST00000442743.1_Missense_Mutation_p.N1033I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1070	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TACCGGATCATTAAAGAGCAA	0.353000													33	55					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19571918	19571918	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:19571918C>A	ENST00000507958.1	-	10	2013	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	CDH18_ENST00000274170.4_Missense_Mutation_p.K341N|CDH18_ENST00000502796.1_Missense_Mutation_p.K341N|CDH18_ENST00000506372.1_Missense_Mutation_p.K341N|CDH18_ENST00000511273.1_Missense_Mutation_p.K341N|CDH18_ENST00000382275.1_Missense_Mutation_p.K341N			Q13634	CAD18_HUMAN	cadherin 18, type 2	341	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGGTATATGACTTCTTTTTCT	0.318000													8	44					5.18039e-06	5.75517e-06	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166903434	166903434	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:166903434A>T	ENST00000423058.2	-	9	1240	c.1223T>A	c.(1222-1224)tTc>tAc	p.F408Y	SCN1A_ENST00000375405.3_Missense_Mutation_p.F408Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.F408Y|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F408Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	408						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGAGCCCAAGAAAATGACCAA	0.388000													8	150					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488649	25488649	+	RNA	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:25488649C>T	ENST00000453082.2	+	0	2277					NR_003343.1																						TGCCCAGCCCCTGAGGCGCTG	0.617000													23	48					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56480818	56480818	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:56480818G>T	ENST00000370765.6	-	24	7554	c.7447C>A	c.(7447-7449)Caa>Aaa	p.Q2483K	DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1779					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTACTGACTTGGGCTTCAAGG	0.512000													126	99					1.0244e-40	1.74684e-40	1	1	0
WFIKKN2	124857	broad.mit.edu	37	17	48918303	48918303	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:48918303C>A	ENST00000311378.4	+	2	2182	c.1654C>A	c.(1654-1656)Cgc>Agc	p.R552S	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R459S	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	552	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATCGAGTGCCCGCCGGGTCAG	0.632000													26	33					5.45727e-16	7.32324e-16	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37326760	37326760	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:37326760C>T	ENST00000262825.5	+	8	1135	c.918C>T	c.(916-918)ctC>ctT	p.L306L	CSF2RB_ENST00000406230.1_Silent_p.L306L|CSF2RB_ENST00000403662.3_Silent_p.L300L|CSF2RB_ENST00000536485.1_Silent_p.L247L	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	300					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCGGCAGCCTCCACACCAGGC	0.642000													23	60					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174974224	174974224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:174974224G>T	ENST00000454872.1	+	4	972	c.844G>T	c.(844-846)Gga>Tga	p.G282*	NAALADL2-AS2_ENST00000424690.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	282					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGTGAGTTATGGAATGGCAGA	0.348000													26	10					9.39395e-14	1.22278e-13	1	1	0
CMTR2	55783	broad.mit.edu	37	16	71318218	71318218	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:71318218T>A	ENST00000338099.5	-	3	1942	c.1606A>T	c.(1606-1608)Aag>Tag	p.K536*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.K536*			Q8IYT2	FTSJ1_HUMAN		536						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCTAAACTTGGAATCCAAA	0.353000													36	9					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11023092	11023092	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:11023092C>A	ENST00000304623.8	-	17	2978		c.e17-1		CTNND2_ENST00000511377.1_Splice_Site|CTNND2_ENST00000503622.1_Splice_Site|CTNND2_ENST00000458100.2_Splice_Site|CTNND2_ENST00000495388.2_Splice_Site|CTNND2_ENST00000359640.2_Splice_Site	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCGTATTTGCCTGGAAAAGAA	0.512000													42	25					1.52319e-26	2.35333e-26	1	1	0
KLHL11	55175	broad.mit.edu	37	17	40010906	40010906	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:40010906T>C	ENST00000319121.3	-	2	1273	c.1213A>G	c.(1213-1215)Aca>Gca	p.T405A		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	405						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TAGGATTCTGTTACTGCAACA	0.403000													38	138					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27285723	27285723	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:27285723C>T	ENST00000496902.4	+	3	1389	c.903C>T	c.(901-903)agC>agT	p.S301S	EVX1_ENST00000535619.1_Silent_p.S119S|EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	301						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGCCCTTCAGCGGCTCGCTGC	0.761000													3	28					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105463487	105463487	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:105463487C>A	ENST00000351513.2	-	2	542	c.410G>T	c.(409-411)tGg>tTg	p.W137L		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	137					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTCACTCCACCACGTCACTGC	0.522000													14	59					4.3838e-07	5.00914e-07	1	1	0
ABCB11	8647	broad.mit.edu	37	2	169791830	169791830	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:169791830C>A	ENST00000263817.6	-	23	3044	c.2920G>T	c.(2920-2922)Gcc>Tcc	p.A974S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	974	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTCTGAATGGCTGTCTTGAAG	0.448000													80	103					3.20846e-33	5.25878e-33	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43629262	43629262	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:43629262C>A	ENST00000332857.6	-	2	276		c.e2+1			NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CAGAGCCTTACCTCTCAGACT	0.547000													126	39					1.06251e-65	1.89891e-65	1	1	0
TFAP2B	7021	broad.mit.edu	37	6	50791390	50791390	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:50791390G>T	ENST00000263046.4	+	3	545	c.379G>T	c.(379-381)Gcc>Tcc	p.A127S	TFAP2B_ENST00000393655.3_Missense_Mutation_p.A118S|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	118	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGGTTCGGAAGCCGGCTCTCT	0.697000													16	54					8.60227e-14	1.12254e-13	1	1	0
ALDH2	217	broad.mit.edu	37	12	112237854	112237854	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:112237854G>T	ENST00000261733.2	+	11	1454	c.1393G>T	c.(1393-1395)Gcg>Tcg	p.A465S	ALDH2_ENST00000416293.3_Missense_Mutation_p.A418S	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	465					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GGCCCTCCAGGCGGGCACTGT	0.577000			T	HMGA2	leiomyoma								11	5					1.58986e-06	1.7866e-06	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31319983	31319983	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:31319983C>A	ENST00000269197.5	+	11	2615	c.2615C>A	c.(2614-2616)aCa>aAa	p.T872K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGCAAAGAACAGAAAAAAAA	0.373000													13	36					7.03913e-09	8.3613e-09	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7660478	7660478	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:7660478G>T	ENST00000572933.1	+	13	3434	c.1974G>T	c.(1972-1974)gtG>gtT	p.V658V	DNAH2_ENST00000389173.2_Silent_p.V658V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	658	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCATTACGTGGTGAACGTAG	0.542000													148	145					1.15162e-75	2.07239e-75	1	1	0
TAGLN3	29114	broad.mit.edu	37	3	111730692	111730692	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:111730692A>G	ENST00000393917.2	+	4	990	c.438A>G	c.(436-438)ggA>ggG	p.G146G	TAGLN3_ENST00000455401.2_Silent_p.G146G|TAGLN3_ENST00000486460.1_Silent_p.G62G|TAGLN3_ENST00000478951.1_Silent_p.G146G|TAGLN3_ENST00000273368.4_Silent_p.G146G	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	146					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						GCTATCGGGGAGAGCCATCCT	0.547000													21	56					0	0	1	0	0
CYSTM1	84418	broad.mit.edu	37	5	139574062	139574062	+	Missense_Mutation	SNP	G	G	C	rs146538925		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:139574062G>C	ENST00000261811.4	+	2	676	c.12G>C	c.(10-12)gaG>gaC	p.E4D	CYSTM1_ENST00000509789.2_Intron	NM_032412.3	NP_115788.1	Q9H1C7	CE032_HUMAN	cysteine-rich transmembrane module containing 1	4																	TGAACCAAGAGAACCCTCCAC	0.488000													35	57					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684203	100684203	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:100684203T>A	ENST00000306151.4	+	3	9570	c.9506T>A	c.(9505-9507)aTg>aAg	p.M3169K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3169	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTAACATATATGCCTGTCAGC	0.483000													270	62					0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72015368	72015368	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:72015368C>G	ENST00000277942.5	-	4	645	c.638G>C	c.(637-639)cGc>cCc	p.R213P		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	213						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						GTAGACCCTGCGCATGCCCTT	0.662000													3	1					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385590	79385590	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:79385590C>A	ENST00000393878.1	-	3	450		c.e3-1		REG3A_ENST00000409839.3_Splice_Site|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Splice_Site	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha						acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.?(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGCAGGCCAGCTTTGAGGGCA	0.567000													11	72					1.36491e-13	1.77076e-13	1	1	0
NCK1	4690	broad.mit.edu	37	3	136665091	136665091	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:136665091A>G	ENST00000469404.1	+	2	792	c.701A>G	c.(700-702)gAa>gGa	p.E234G	NCK1_ENST00000481752.1_Missense_Mutation_p.E298G|NCK1_ENST00000288986.2_Missense_Mutation_p.E298G|IL20RB_ENST00000484501.1_3'UTR	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	298	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCATTAAATGAAAGAGGACAT	0.393000													123	37					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768887	31768887	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:31768887C>T	ENST00000240587.4	-	2	2139	c.1812G>A	c.(1810-1812)aaG>aaA	p.K604K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	604					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAAAGTTTGTCTTGGGCATGG	0.552000													102	28					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090213	34090213	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:34090213C>A	ENST00000373381.4	-	35	5707	c.5531G>T	c.(5530-5532)aGg>aTg	p.R1844M	CSMD2_ENST00000373380.1_Missense_Mutation_p.R717M|CSMD2_ENST00000373388.2_De_novo_Start_InFrame|CSMD2_ENST00000373377.1_De_novo_Start_InFrame	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1804	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GATGGTGCCCCTGCGCTCTGT	0.642000													40	96					6.48837e-15	8.56706e-15	1	1	0
MYH13	8735	broad.mit.edu	37	17	10247425	10247425	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:10247425G>T	ENST00000418404.3	-	15	1749	c.1584_splice	c.e15-1	p.P529_splice	MYH13_ENST00000252172.4_Splice_Site_p.P529_splice|MYH13_ENST00000570743.1_Splice_Site_p.P529_splice			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	529	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GATGCCCATAGGCTGGAAAGA	0.463000													5	89					0.217242	0.218361	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163393574	163393574	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:163393574A>G	ENST00000332142.5	-	3	423	c.324T>C	c.(322-324)tgT>tgC	p.C108C	KCNH7_ENST00000328032.4_Silent_p.C108C	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	108	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.C108*(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGTGAGTGTTACAAATAAAAG	0.333000													20	104					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059807	248059807	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:248059807G>T	ENST00000537741.1	+	3	1176	c.919G>T	c.(919-921)Ggg>Tgg	p.G307W	OR2W3_ENST00000360358.3_Missense_Mutation_p.G307W			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTTGCTTCTGGGGAAGAGAGA	0.527000													41	3					3.09479e-21	4.53476e-21	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7585997	7585997	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:7585997C>A	ENST00000313599.3	-	3	475	c.418G>T	c.(418-420)Gga>Tga	p.G140*	CD163L1_ENST00000416109.2_Nonsense_Mutation_p.G140*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.G140*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	140	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACATCTTCTCCATGATAACAG	0.443000													63	15					2.84776e-26	4.38678e-26	1	1	0
IGHG1	3500	broad.mit.edu	37	14	106209214	106209214	+	RNA	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:106209214G>A	ENST00000390548.2	-	0	194																											CCACGCTGCTGAGGGAGTAGA	0.607000													26	25					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													5	226					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137363377	137363377	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:137363377G>T	ENST00000424189.2	-	3	761	c.532C>A	c.(532-534)Cac>Aac	p.H178N	DGKI_ENST00000288490.5_Missense_Mutation_p.H178N|DGKI_ENST00000446122.1_Missense_Mutation_p.H178N|DGKI_ENST00000453654.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	178					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGCCACAGGTGTTCTCCATTC	0.478000													61	174					5.86059e-21	8.56337e-21	1	1	0
RGS9	8787	broad.mit.edu	37	17	63221384	63221384	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:63221384G>A	ENST00000449996.3	+	18	1735	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	RGS9_ENST00000262406.9_Missense_Mutation_p.E558K|RGS9_ENST00000443584.3_Missense_Mutation_p.E555K	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	558				E -> D (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.E558K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGAGAGCAGCGAGGCCTCCCT	0.667000													76	192					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48426705	48426705	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:48426705G>C	ENST00000224605.2	-	3	1567	c.1302C>G	c.(1300-1302)atC>atG	p.I434M		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	434					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGCCAGGGATGATGCCCACAG	0.552000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	158					0	0	1	0	0
FIRRE	286467	broad.mit.edu	37	X	130929912	130929912	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:130929912G>T	ENST00000427391.1	-	0	1009					NR_026975.1																						TCCCCTGGAGGGATGGGGACT	0.657000													4	1					1	1	1	1	0
CASC3	22794	broad.mit.edu	37	17	38319736	38319736	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:38319736A>T	ENST00000264645.7	+	7	1014	c.788A>T	c.(787-789)tAt>tTt	p.Y263F		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	263	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TTTTGTAGATATGGGAGTCCT	0.498000													70	57					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108541777	108541777	+	Translation_Start_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:108541777G>T	ENST00000295756.6	+	1	233	c.3G>T	c.(1-3)atG>atT	p.M1I	TRAT1_ENST00000426646.1_Start_Codon_SNP_p.M1I|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	1					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AAAGAAGCATGTCAGGTAAGT	0.313000													22	70					9.57634e-11	1.17689e-10	1	1	0
P2RY10	27334	broad.mit.edu	37	X	78216073	78216073	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:78216073G>C	ENST00000171757.2	+	4	336	c.56G>C	c.(55-57)aGc>aCc	p.S19T	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.S19T	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	19						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AACAGTACCAGCACTGCTGAG	0.378000													18	36					0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24113332	24113332	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:24113332C>T	ENST00000250383.6	+	6	977	c.501C>T	c.(499-501)gtC>gtT	p.V167V	DHRS2_ENST00000344777.7_Silent_p.V167V	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	145					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GGGGTGCTGTCATCCTGGTCT	0.458000													31	76					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141458077	141458077	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:141458077T>G	ENST00000389484.3	-	41	7512	c.6541A>C	c.(6541-6543)Act>Cct	p.T2181P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2181	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCAGGCAAGTAACTCCATCT	0.413000										TSP Lung(27;0.18)			13	165					0	0	1	0	0
OFCC1	266553	broad.mit.edu	37	6	9933538	9933538	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:9933538A>G	ENST00000316020.6	-	3	219	c.220T>C	c.(220-222)Ttt>Ctt	p.F74L	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTCTGCTGAAACTTCTGGAGG	0.358000													11	53					0	0	1	0	0
RNASE11	122651	broad.mit.edu	37	14	21052356	21052356	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:21052356T>C	ENST00000335950.4	-	3	740	c.278A>G	c.(277-279)aAt>aGt	p.N93S	RNASE11_ENST00000398009.2_Missense_Mutation_p.N93S|RNASE11_ENST00000553849.1_Missense_Mutation_p.N93S|RNASE11_ENST00000398008.2_Missense_Mutation_p.N93S|RNASE11_ENST00000555841.1_Missense_Mutation_p.N93S|RNASE11_ENST00000432835.2_Missense_Mutation_p.N93S	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	93						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		CTCTTTGTCATTACCCGAACT	0.423000													5	232					0	0	1	0	0
FAM115A	9747	broad.mit.edu	37	7	143573332	143573332	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:143573332C>A	ENST00000479870.1	-	2	578	c.370G>T	c.(370-372)Gtt>Ttt	p.V124F	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.V124F	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	124										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					ATACAGTAAACCCCCAGGGAG	0.507000													31	91					5.84002e-05	6.34361e-05	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62036744	62036744	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:62036744G>C	ENST00000435607.1	-	12	1976	c.1900C>G	c.(1900-1902)Ccc>Gcc	p.P634A	SCN4A_ENST00000578147.1_Missense_Mutation_p.P634A	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	634					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TACTCGTAGGGGTCCATGGCA	0.567000													12	29					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166870310	166870310	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:166870310G>T	ENST00000423058.2	-	18	3666	c.3649C>A	c.(3649-3651)Cat>Aat	p.H1217N	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.H1206N|SCN1A_ENST00000303395.4_Missense_Mutation_p.H1217N|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.H1189N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1217						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACCAGTTATGTTCAACTATT	0.393000													54	61					1.11015e-26	1.71859e-26	1	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55062908	55062908	+	RNA	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:55062908C>G	ENST00000526016.1	-	0	729					NR_038174.2																						GAATCTTCATCATCATGATAC	0.418000													10	15					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6208940	6208940	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:6208940C>T	ENST00000262450.3	-	9	1456	c.1357G>A	c.(1357-1359)Ggt>Agt	p.G453S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	453	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCCATTCACCGTTTGGGATC	0.726000													20	42					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280101	18280101	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:18280101G>T	ENST00000377369.2	+	8	1564	c.1291G>T	c.(1291-1293)Gaa>Taa	p.E431*	SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.E297*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.E431*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.E431*	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	431					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACATAAGCAGGAAGCCCCAGA	0.363000													13	72					0.00136819	0.00144205	1	1	0
OR5D18	219438	broad.mit.edu	37	11	55587915	55587915	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:55587915C>A	ENST00000333976.4	+	1	830	c.810C>A	c.(808-810)caC>caA	p.H270Q		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	270			H -> R (in dbSNP:rs55832853).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTCCAGGCACACAGTCAAAG	0.502000													14	43					0.00498961	0.00516486	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72969235	72969235	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:72969235T>C	ENST00000262209.4	-	10	1318	c.1111A>G	c.(1111-1113)Aaa>Gaa	p.K371E		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	371						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAATTATCTTTTATGTCTACT	0.289000													6	15					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065482	23065482	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:23065482A>T	ENST00000246006.4	-	1	1495	c.1348T>A	c.(1348-1350)Ttc>Atc	p.F450I		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	450	EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCACAGTGGAAGGACCCTTGT	0.667000													39	78					0	0	1	0	0
CCL21	6366	broad.mit.edu	37	9	34709818	34709818	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:34709818G>C	ENST00000259607.2	-	2	201	c.144C>G	c.(142-144)taC>taG	p.Y48*	CCL21_ENST00000378792.1_Nonsense_Mutation_p.Y48*	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	48					activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity	p.Y48Y(1)		large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CCTGCTTCCGGTAGCTGCGGA	0.597000													6	79					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80338745	80338745	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:80338745T>C	ENST00000265080.4	+	2	405	c.338T>C	c.(337-339)cTg>cCg	p.L113P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	113	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCACTGGAGCTGCGCTGTGAG	0.443000													5	15					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918600	154918600	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:154918600C>G	ENST00000368463.3	-	10	1621	c.1550G>C	c.(1549-1551)tGg>tCg	p.W517S	PBXIP1_ENST00000542459.1_Missense_Mutation_p.W362S|PBXIP1_ENST00000539880.1_Missense_Mutation_p.W344S|PBXIP1_ENST00000368465.1_Missense_Mutation_p.W488S	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	517					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCCTCCTTCCACCTTCCTGC	0.597000													79	388					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880318	74880318	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:74880318C>A	ENST00000289575.5	+	5	944	c.549C>A	c.(547-549)acC>acA	p.T183T	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Silent_p.T39T|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000428359.2_Silent_p.T161T|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000532236.1_Silent_p.T67T|SLCO2B1_ENST00000531756.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	183					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ACACAGAAACCCAGCATCTGA	0.602000													77	17					2.72187e-29	4.3163e-29	1	1	0
MUC16	94025	broad.mit.edu	37	19	9066302	9066302	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:9066302G>T	ENST00000397910.4	-	3	21347	c.21144C>A	c.(21142-21144)gaC>gaA	p.D7048E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7050	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGGATGTGTCCAAGGTAA	0.502000													72	22					4.66136e-34	7.70481e-34	1	1	0
CLCA1	1179	broad.mit.edu	37	1	86954771	86954771	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:86954771C>T	ENST00000234701.3	+	9	1626	c.1275C>T	c.(1273-1275)gtC>gtT	p.V425V	CLCA1_ENST00000394711.1_Silent_p.V425V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	425	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTAACGAGGTCAAACAAAGTG	0.478000													4	43					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9605636	9605636	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:9605636A>T	ENST00000310430.6	+	18	2772	c.2746A>T	c.(2746-2748)Acg>Tcg	p.T916S	TNKS_ENST00000518281.1_Missense_Mutation_p.T679S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	916					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GAAAGGAAGGACGCAGCTGTG	0.512000													23	7					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186643598	186643598	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:186643598C>A	ENST00000367468.5	-	10	1838	c.1702G>T	c.(1702-1704)Gtt>Ttt	p.V568F	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	568					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GGATCTGGAACACTGAATGAA	0.433000													79	29					8.16569e-41	1.39397e-40	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17498186	17498186	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:17498186G>A	ENST00000302539.4	-	1	263	c.138C>T	c.(136-138)atC>atT	p.I46I	ABCC8_ENST00000389817.3_Silent_p.I46I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	46					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CAATGAAGAGGATGGGGAAGG	0.677000													10	12					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036440	177036440	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:177036440G>T	ENST00000468418.3	+	4	2827	c.737G>T	c.(736-738)cGc>cTc	p.R246L	HOXD3_ENST00000249440.3_Missense_Mutation_p.R246L|HOXD3_ENST00000410016.1_Missense_Mutation_p.R246L			P31249	HXD3_HUMAN	homeobox D3	246					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CAGAACCGGCGCATGAAGTAC	0.642000													60	55					7.41606e-26	1.13791e-25	1	1	0
PRSS22	64063	broad.mit.edu	37	16	2905594	2905594	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:2905594C>A	ENST00000161006.3	-	4	605	c.540G>T	c.(538-540)tgG>tgT	p.W180C	PRSS22_ENST00000571228.1_Intron	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	180	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GGATGCTCCCCCAGCCTGAGA	0.592000													26	54					1.74197e-06	1.95612e-06	1	1	0
DVL3	1857	broad.mit.edu	37	3	183888414	183888414	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:183888414G>T	ENST00000313143.3	+	15	2270	c.2022G>T	c.(2020-2022)gcG>gcT	p.A674A	DVL3_ENST00000431765.1_Silent_p.A657A|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	674					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGCCGCCCGCGGCCATGGGGC	0.721000													17	29					6.49762e-13	8.28513e-13	1	1	0
RPTOR	57521	broad.mit.edu	37	17	78704506	78704506	+	Splice_Site	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:78704506G>A	ENST00000306801.3	+	5	1016	c.654_splice	c.e5+1	p.E218_splice	RPTOR_ENST00000570891.1_Splice_Site_p.E218_splice|RPTOR_ENST00000544334.2_Splice_Site_p.E218_splice|RPTOR_ENST00000537330.1_Splice_Site_p.E33_splice	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	218				LE -> RQ (in Ref. 6; BAA92541).	cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGGAGCTGGAGGTGAGCGCTC	0.592000													10	97					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580273	161580273	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:161580273C>T	ENST00000356592.3	+	10	1787	c.1327C>T	c.(1327-1329)Cat>Tat	p.H443Y	GABRG2_ENST00000393933.4_Missense_Mutation_p.H340Y|GABRG2_ENST00000361925.4_Missense_Mutation_p.H435Y|GABRG2_ENST00000414552.2_Missense_Mutation_p.H483Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	435					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGGGAGGATACATATCCGCAT	0.488000													57	66					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158648266	158648266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158648266C>T	ENST00000368148.3	-	6	917	c.737G>A	c.(736-738)tGg>tAg	p.W246*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.W246*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	246					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGGCGCTCCCAGGCAGCATT	0.448000													22	155					0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73515224	73515224	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:73515224C>A	ENST00000394957.3	-	4	627		c.e4-1		CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54							integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GCCGTGATGTCTGAAAGGGCA	0.597000													5	8					0.184627	0.185697	1	1	0
TBX21	30009	broad.mit.edu	37	17	45820522	45820522	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:45820522C>A	ENST00000177694.1	+	3	943	c.732C>A	c.(730-732)ctC>ctA	p.L244L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	244					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AACTAAAGCTCACAAACAACA	0.572000													27	65					2.48779e-11	3.09144e-11	1	1	0
WDR49	151790	broad.mit.edu	37	3	167322258	167322258	+	Splice_Site	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:167322258T>A	ENST00000308378.3	-	2	241		c.e2-2		WDR49_ENST00000479765.1_Splice_Site|WDR49_ENST00000453925.2_Splice_Site	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49											breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGTAAGTAACTGATAAAAAAT	0.299000													32	13					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85218725	85218725	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:85218725G>T	ENST00000357749.2	-	5	676	c.647C>A	c.(646-648)aCt>aAt	p.T216N	CHM_ENST00000537751.1_Missense_Mutation_p.T68N|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	216					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTGTGAGTAAGTAATTCTGTT	0.338000													14	26					1.5842e-08	1.86897e-08	1	1	0
PTCRA	171558	broad.mit.edu	37	6	42893099	42893099	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:42893099C>T	ENST00000304672.1	+	4	606	c.525C>T	c.(523-525)ccC>ccT	p.P175P	PTCRA_ENST00000441198.1_Silent_p.P150P|PTCRA_ENST00000446507.1_Silent_p.P68P	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	175						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGTGCGACCCCGCGGGCCCGC	0.716000													14	5					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954599	33954599	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:33954599T>C	ENST00000389232.4	+	35	4938	c.4868T>C	c.(4867-4869)cTg>cCg	p.L1623P	RYR3_ENST00000415757.3_Missense_Mutation_p.L1623P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1623	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAGGAAGCTGATGATGAAG	0.557000													9	13					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	82072745	82072745	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:82072745G>A	ENST00000356860.3	-	1	369	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	CACNA2D1_ENST00000423588.1_Silent_p.L11L|CACNA2D1_ENST00000356253.5_Silent_p.L11L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	11						voltage-gated calcium channel complex	metal ion binding	p.L11V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAAAGTGTCAGAGTCAAGGCC	0.672000													27	1					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42451839	42451839	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:42451839C>A	ENST00000262407.5	-	29	2975		c.e29-1		ITGA2B_ENST00000353281.4_Splice_Site	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)						axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GTGTCCACACCTGGGGGCAAA	0.617000													30	101					1.02151e-06	1.15206e-06	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142626154	142626154	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142626154A>G	ENST00000265310.1	-	5	897	c.549T>C	c.(547-549)atT>atC	p.I183I	TRPV5_ENST00000442623.1_Silent_p.I183I	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	183					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCATGCTCAATGAGCAGCC	0.607000													10	39					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132277107	132277107	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:132277107G>T	ENST00000438378.2	+	0	2176					NR_026922.1																						CTCTCTGGCAGCTCAGCGAAG	0.572000													8	29					3.09899e-07	3.55144e-07	1	1	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802720	31802720	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:31802720C>A	ENST00000334068.2	+	1	149	c.127C>A	c.(127-129)Ctg>Atg	p.L43M		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	43	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CACCTGCCAGCTGCGTTCCTC	0.632000													68	117					5.97199e-22	8.85034e-22	1	1	0
BLK	640	broad.mit.edu	37	8	11400748	11400748	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:11400748T>A	ENST00000259089.4	+	2	607	c.15T>A	c.(13-15)agT>agA	p.S5R	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	5					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GGCTGGTAAGTAGCAAAAAGC	0.607000													15	14					0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98251876	98251876	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:98251876A>T	ENST00000284311.3	+	1	1134	c.999A>T	c.(997-999)tcA>tcT	p.S333S		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	333						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTGAGACATCAGATAGTCACC	0.473000													33	86					0	0	1	0	0
PRRG1	5638	broad.mit.edu	37	X	37265461	37265461	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:37265461G>T	ENST00000542554.1	+	3	231		c.e3-1		PRRG1_ENST00000491253.1_Splice_Site|PRRG1_ENST00000543642.1_Splice_Site|PRRG1_ENST00000449135.2_Splice_Site|PRRG1_ENST00000463135.1_Splice_Site|PRRG1_ENST00000378628.4_Splice_Site|TM4SF2_ENST00000465127.1_Splice_Site	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1							extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GTTTTGTACAGGGAATCATCA	0.438000													24	30					1.77063e-15	2.36185e-15	1	1	0
CDH10	1008	broad.mit.edu	37	5	24509757	24509757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:24509757C>A	ENST00000264463.4	-	7	1681	c.1174G>T	c.(1174-1176)Gaa>Taa	p.E392*		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	392	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCATGAACTTCAAACAGATAG	0.378000										HNSCC(23;0.051)			42	30					2.68985e-26	4.14763e-26	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232539872	232539872	+	Splice_Site	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:232539872T>A	ENST00000366630.1	-	19	5173	c.4816_splice	c.e19+1	p.L1605_splice	SIPA1L2_ENST00000308942.4_Intron|SIPA1L2_ENST00000262861.4_Splice_Site_p.L1605_splice			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1605					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GACAATCACCTAGATAGGACG	0.453000													59	10					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142622658	142622658	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142622658C>G	ENST00000265310.1	-	8	1436	c.1088G>C	c.(1087-1089)cGa>cCa	p.R363P	TRPV5_ENST00000442623.1_Missense_Mutation_p.R363P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	363					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGTGATGTCTCGAGAATGAGT	0.522000													4	71					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98806782	98806782	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:98806782C>A	ENST00000266058.4	-	17	1920	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W	SLIT1_ENST00000371070.4_Missense_Mutation_p.G559W|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	559					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTAAACATCCCAGTGGCCTCC	0.438000													7	23					1	1	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62020207	62020207	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:62020207C>A	ENST00000435607.1	-	23	4343	c.4267G>T	c.(4267-4269)Gtc>Ttc	p.V1423F	SCN4A_ENST00000578147.1_Missense_Mutation_p.V1423F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1423					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGATGACGACCACGAAGTCA	0.587000													25	18					9.57634e-11	1.17689e-10	1	1	0
TAS2R50	259296	broad.mit.edu	37	12	11139352	11139352	+	Silent	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:11139352C>G	ENST00000506868.1	-	1	159	c.108G>C	c.(106-108)gtG>gtC	p.V36V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	36					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TTTTTCTCTTCACCCAGTCAA	0.358000													10	114					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43596057	43596057	+	Missense_Mutation	SNP	C	C	A	rs142641173		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:43596057C>A	ENST00000355710.3	+	2	456	c.224C>A	c.(223-225)aCg>aAg	p.T75K	RET_ENST00000340058.5_Missense_Mutation_p.T75K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	75					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTCTACGGCACGTACCGCACA	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				16	45					2.94398e-08	3.44974e-08	1	1	0
MYT1	4661	broad.mit.edu	37	20	62839665	62839665	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:62839665G>C	ENST00000536311.1	+	7	1480	c.1116G>C	c.(1114-1116)atG>atC	p.M372I	MYT1_ENST00000328439.1_Missense_Mutation_p.M372I|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	372					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGCAGGACATGATGACCCGGG	0.617000													58	15					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10911980	10911980	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:10911980C>A	ENST00000381661.3	+	7	595	c.486C>A	c.(484-486)acC>acA	p.T162T	ATP6V1C2_ENST00000272238.4_Silent_p.T162T	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	162					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ACCTCTTCACCCGGACACTGA	0.537000													85	130					3.60193e-44	6.22368e-44	1	1	0
YIF1B	90522	broad.mit.edu	37	19	38806359	38806359	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:38806359G>C	ENST00000329420.8	-	1	74	c.11C>G	c.(10-12)tCg>tGg	p.S4W	YIF1B_ENST00000339413.6_Intron|YIF1B_ENST00000591784.1_Intron|YIF1B_ENST00000337679.8_Intron|YIF1B_ENST00000592694.1_Intron|YIF1B_ENST00000587361.1_Intron|YIF1B_ENST00000591755.1_Intron	NM_001039671.2|NM_001145461.1	NP_001034760.1|NP_001138933.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	0						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTCCTACCCGAACCTGGCAT	0.567000													11	12					0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22023042	22023042	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:22023042G>T	ENST00000284202.4	+	7	661	c.520G>T	c.(520-522)Gat>Tat	p.D174Y		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	174										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					ACCTCCGATTGATCATGGCAT	0.363000													142	69					1.71262e-58	3.0399e-58	1	1	0
CHRDL2	25884	broad.mit.edu	37	11	74441865	74441865	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:74441865G>A	ENST00000376332.3	-	1	565	c.69C>T	c.(67-69)tcC>tcT	p.S23S	CHRDL2_ENST00000263671.5_Silent_p.S23S|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	23					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTCGAGCGTGGGAGTCCAGGG	0.677000													5	7					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24756920	24756920	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:24756920A>T	ENST00000545231.1	-	7	1308	c.158T>A	c.(157-159)aTt>aAt	p.I53N	DFNA5_ENST00000409775.3_Missense_Mutation_p.I217N|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Missense_Mutation_p.I53N|DFNA5_ENST00000342947.3_Missense_Mutation_p.I217N|DFNA5_ENST00000419307.1_Missense_Mutation_p.I53N			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	217					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACCGTAGGCAATGGTGGTGGC	0.587000													11	96					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158167755	158167755	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:158167755A>T	ENST00000259056.4	+	10	3203	c.2718A>T	c.(2716-2718)ttA>ttT	p.L906F		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	906	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATCAGCAATTATTATGCTTGG	0.358000													39	32					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51918029	51918029	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:51918029T>A	ENST00000371117.3	-	21	2260	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	PKHD1_ENST00000340994.4_Missense_Mutation_p.D662V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	662					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCCCAGAGGTCAGTGCAATC	0.577000													58	49					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121624034	121624034	+	Missense_Mutation	SNP	G	G	C	rs77955006		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:121624034G>C	ENST00000393386.2	+	8	1202	c.791G>C	c.(790-792)tGt>tCt	p.C264S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.C264S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	264	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCTGTTTTTTGTGAAGTTCTT	0.318000													17	13					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638823	32638823	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:32638823C>A	ENST00000286827.3	-	5	937	c.466G>T	c.(466-468)Ggg>Tgg	p.G156W	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.G156W	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	156					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAAGTGGGCCCATTGGATGTA	0.532000													69	119					1.38705e-31	2.24749e-31	1	1	0
ANTXR1	84168	broad.mit.edu	37	2	69300231	69300231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:69300231G>T	ENST00000303714.4	+	6	812	c.490G>T	c.(490-492)Gag>Tag	p.E164*	ANTXR1_ENST00000409829.3_Nonsense_Mutation_p.E164*|ANTXR1_ENST00000409349.3_Nonsense_Mutation_p.E164*	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	164	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCAGAGAGGGAGGTAAGCAA	0.453000									Familial Infantile Hemangioma				71	48					6.52717e-41	1.11547e-40	1	1	0
IRX6	79190	broad.mit.edu	37	16	55360348	55360348	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:55360348G>A	ENST00000290552.7	+	2	1478	c.146G>A	c.(145-147)tGc>tAc	p.C49Y	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	49						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCTCTCTGCTGCGCACCCTAC	0.647000													19	25					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164346	150164346	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:150164346G>T	ENST00000307271.3	+	2	1134	c.560G>T	c.(559-561)cGc>cTc	p.R187L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	187						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAGCTCCTTCGCAAGGTTGAG	0.433000													40	85					3.43241e-23	5.17014e-23	1	1	0
CNTFR	1271	broad.mit.edu	37	9	34564627	34564627	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:34564627G>A	ENST00000378980.3	-	4	582	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	CNTFR_ENST00000351266.4_Silent_p.L97L	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	97	Ig-like C2-type.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TGGTGGCGCAGGTGCCAGGAG	0.632000													14	3					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108338911	108338911	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:108338911G>A	ENST00000344440.6	-	26	3469	c.3470C>T	c.(3469-3471)cCt>cTt	p.P1157L	SORCS1_ENST00000263054.6_Intron|SORCS1_ENST00000369698.1_Missense_Mutation_p.P692L	NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1	NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	0						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCAGTCTGAGGGACATTGGG	0.493000													30	62					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971020	101971020	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:101971020A>T	ENST00000543253.1	+	5	2142	c.1223A>T	c.(1222-1224)gAa>gTa	p.E408V	GPRASP2_ENST00000332262.5_Missense_Mutation_p.E408V|GPRASP2_ENST00000535209.1_Missense_Mutation_p.E408V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GCAATCTGTGAATCTGAGCCA	0.557000													44	14					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3702301	3702301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:3702301G>T	ENST00000382622.3	+	10	1528	c.1138G>T	c.(1138-1140)Gga>Tga	p.G380*	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Nonsense_Mutation_p.G371*	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	380					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GGATTTTAAGGGACAGCTGTG	0.512000													9	18					1.76689e-08	2.07979e-08	1	1	0
VGF	7425	broad.mit.edu	37	7	100807439	100807439	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:100807439G>T	ENST00000249330.2	-	2	925	c.686C>A	c.(685-687)tCt>tAt	p.S229Y	VGF_ENST00000445482.2_Missense_Mutation_p.S229Y	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	229					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGGAATTGAGAgggggccgg	0.687000													9	20					2.17888e-05	2.38e-05	1	1	0
MIR3654	100500804	broad.mit.edu	37	11	62349014	62349014	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:62349014C>A	ENST00000496634.2	-	3	478	c.433G>T	c.(433-435)Gac>Tac	p.D145Y	TUT1_ENST00000308436.7_Missense_Mutation_p.D183Y|TUT1_ENST00000476907.1_Missense_Mutation_p.D145Y																NS(1)	1						TGGTGACTGTCGGGGGCCGCT	0.652000													28	34					4.62619e-21	6.76602e-21	1	1	0
ANKAR	150709	broad.mit.edu	37	2	190569877	190569877	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:190569877T>C	ENST00000520309.1	+	8	1925	c.1837T>C	c.(1837-1839)Tat>Cat	p.Y613H	ANKAR_ENST00000431575.2_Missense_Mutation_p.Y542H|ANKAR_ENST00000313581.4_Missense_Mutation_p.Y613H|ANKAR_ENST00000281412.6_Missense_Mutation_p.Y377H|ANKAR_ENST00000438402.2_Missense_Mutation_p.Y613H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	613						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCCGCTTTCTATGACAACGT	0.418000													35	79					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115384639	115384639	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:115384639G>A	ENST00000369358.4	-	22	2563	c.2319C>T	c.(2317-2319)agC>agT	p.S773S	NRAP_ENST00000359988.3_Silent_p.S765S|NRAP_ENST00000369360.3_Silent_p.S738S|NRAP_ENST00000360478.3_Silent_p.S730S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	765						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCTCGTCTTTGCTGATGGTAT	0.557000													65	56					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28645914	28645914	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:28645914G>T	ENST00000328886.4	-	5	730	c.658C>A	c.(658-660)Cca>Aca	p.P220T	TMIGD1_ENST00000538566.2_Intron	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	220						integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GGCTCTATTGGTACACCCACA	0.368000													16	53					1.56452e-12	1.98682e-12	1	1	0
SAMD7	344658	broad.mit.edu	37	3	169644787	169644787	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:169644787C>T	ENST00000428432.2	+	6	1126	c.737C>T	c.(736-738)aCa>aTa	p.T246I	SAMD7_ENST00000335556.3_Missense_Mutation_p.T246I	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	246										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAGCCAACGACAGCTCTTGCC	0.512000													68	177					0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812965	31812965	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:31812965G>T	ENST00000334067.3	+	1	369	c.320G>T	c.(319-321)tGt>tTt	p.C107F		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	107						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TCTCTTGGTTGTGGAAGCACT	0.493000													82	132					1.91593e-42	3.29591e-42	1	1	0
PRAMENP	649179	broad.mit.edu	37	22	22380867	22380867	+	RNA	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:22380867C>G	ENST00000337471.4	-	0	253																											TCTGGGACCACAGCCTCCCTG	0.532000													9	25					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299277	125299277	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:125299277C>A	ENST00000538699.1	-	2	711	c.631G>T	c.(631-633)Ggc>Tgc	p.G211C	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G211C	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	211										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCGCGGGAGCCGCTCACAGCT	0.647000													22	49					7.45023e-12	9.3322e-12	1	1	0
PIGQ	9091	broad.mit.edu	37	16	633239	633239	+	Missense_Mutation	SNP	G	G	A	rs146507621		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:633239G>A	ENST00000026218.5	+	10	1976	c.1888G>A	c.(1888-1890)Gca>Aca	p.A630T	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	630					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CAGGCTGGCCGCACTCCATCA	0.652000													76	208					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105953675	105953675	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:105953675G>T	ENST00000357060.3	-	11	1506	c.1391C>A	c.(1390-1392)cCt>cAt	p.P464H	WDR96_ENST00000278064.2_Missense_Mutation_p.P395H|WDR96_ENST00000369720.1_Missense_Mutation_p.P395H|WDR96_ENST00000428666.1_Missense_Mutation_p.P465H	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	464										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACGACCTGAGGGGATTCCTT	0.582000													22	49					1.40151e-16	1.90031e-16	1	1	0
NCAN	1463	broad.mit.edu	37	19	19344612	19344612	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:19344612T>C	ENST00000252575.5	+	9	3077	c.3034T>C	c.(3034-3036)Tgt>Cgt	p.C1012R	NCAN_ENST00000538881.1_Missense_Mutation_p.C463R	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1012	EGF-like 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTCAGATCCCTGTGAGAACAA	0.542000													82	25					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101961724	101961724	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:101961724C>A	ENST00000394854.3	-	11	1840		c.e11-1		PPP3CA_ENST00000507176.1_Splice_Site|PPP3CA_ENST00000394853.4_Splice_Site|PPP3CA_ENST00000523694.2_Splice_Site|PPP3CA_ENST00000323055.6_Splice_Site|PPP3CA_ENST00000512215.1_Splice_Site	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme						protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCTGTTGCACCTGTATTTTCA	0.408000													18	36					0.000566183	0.000601618	1	1	0
ZNF645	158506	broad.mit.edu	37	X	22291576	22291576	+	Silent	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:22291576T>C	ENST00000323684.1	+	1	512	c.468T>C	c.(466-468)caT>caC	p.H156H		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	156						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TTCGTCCTCATATTGCTCCGC	0.458000													41	17					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3287225	3287225	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:3287225T>A	ENST00000436008.2	-	7	1876	c.1414A>T	c.(1414-1416)Acg>Tcg	p.T472S	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Missense_Mutation_p.T472S|SLC22A23_ENST00000380302.4_Missense_Mutation_p.T191S|SLC22A23_ENST00000490273.1_Missense_Mutation_p.T191S			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	472					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ATGCTGGCCGTGGTATAGTAG	0.627000													40	50					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85403695	85403695	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:85403695G>T	ENST00000373131.1	+	1	234	c.71G>T	c.(70-72)cGg>cTg	p.R24L	DACH2_ENST00000373125.4_Missense_Mutation_p.R24L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.R24L(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGCTTATTCCGGGCCGAACCC	0.582000													8	7					1.26484e-09	1.51976e-09	1	1	0
FAM86JP	100125556	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:125647387G>A	ENST00000485843.1	+	0	532					NR_024251.1																						ACCAGAAACTGTTTCCCTATG	0.502000													7	121					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72330522	72330522	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:72330522G>A	ENST00000430046.2	+	9	951	c.835G>A	c.(835-837)Gtt>Att	p.V279I	FCHO2_ENST00000287761.6_Missense_Mutation_p.V279I|FCHO2_ENST00000341845.6_Missense_Mutation_p.V279I|FCHO2_ENST00000512348.1_Missense_Mutation_p.V246I	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	279										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TGCTAGTGCAGTTGAAGGTAA	0.333000													26	30					0	0	1	0	0
CARD16	114769	broad.mit.edu	37	11	104912370	104912370	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:104912370T>A	ENST00000375706.2	-	3	368	c.351A>T	c.(349-351)ctA>ctT	p.L117L	CASP1_ENST00000598974.1_Intron|CARD16_ENST00000525374.1_3'UTR|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000375704.3_3'UTR|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						GAGCGTCTTCTAGAAAGCAAA	0.433000													86	12					0	0	1	0	0
QTRTD1	79691	broad.mit.edu	37	3	113784146	113784146	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:113784146A>G	ENST00000281273.4	+	3	299	c.42A>G	c.(40-42)ctA>ctG	p.L14L	QTRTD1_ENST00000485050.1_Silent_p.L26L|QTRTD1_ENST00000466050.1_3'UTR|QTRTD1_ENST00000493014.1_Intron|QTRTD1_ENST00000479882.1_Intron	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	14					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GCTGTCGCCTAGGAAAAATAA	0.473000													55	44					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49676867	49676867	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:49676867G>T	ENST00000339139.4	-	4	279	c.43C>A	c.(43-45)Cca>Aca	p.P15T		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	15						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GGTAAAGATGGAAGCAGCACA	0.383000													59	59					7.59065e-32	1.23121e-31	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78647150	78647150	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:78647150C>A	ENST00000286627.5	-	27	4363	c.3411G>T	c.(3409-3411)tcG>tcT	p.S1137S	KCNMA1_ENST00000372443.1_Silent_p.S1164S|KCNMA1_ENST00000404771.3_Silent_p.S1195S|KCNMA1_ENST00000372440.1_Silent_p.S1137S|KCNMA1_ENST00000404857.1_Silent_p.S1178S|KCNMA1_ENST00000286628.8_Silent_p.S1195S|KCNMA1_ENST00000406533.3_Silent_p.S1199S|KCNMA1_ENST00000354353.5_Silent_p.S1198S	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1195					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGGACTGCGACGAGTGGGAGG	0.582000													52	37					1.22102e-19	1.74176e-19	1	1	0
SI	6476	broad.mit.edu	37	3	164773049	164773049	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:164773049C>A	ENST00000264382.3	-	13	1507	c.1445G>T	c.(1444-1446)tGc>tTc	p.C482F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	482	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCAATCAATGCAGTTTGGGTT	0.323000										HNSCC(35;0.089)			37	36					6.45866e-13	8.26243e-13	1	1	0
ADGRG6	57211	broad.mit.edu	37	6	142711442	142711442	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:142711442C>T	ENST00000230173.6	+	7	1746	c.1270C>T	c.(1270-1272)Cac>Tac	p.H424Y	GPR126_ENST00000296932.8_Missense_Mutation_p.H396Y|GPR126_ENST00000367608.2_Missense_Mutation_p.H396Y|GPR126_ENST00000367609.3_Missense_Mutation_p.H424Y	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	424					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CATCCTTCGTCACCCTGAGGT	0.333000													27	110					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12958215	12958215	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:12958215G>A	ENST00000251472.4	+	5	478	c.439G>A	c.(439-441)Gat>Aat	p.D147N	MAST1_ENST00000591495.1_Missense_Mutation_p.D143N	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	147					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CACAGACGAGGATGGTGGCCG	0.647000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	37					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247639	247639	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:247639C>T	ENST00000538872.1	+	4	1228	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	IQSEC3_ENST00000382841.2_Silent_p.L67L|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.L370L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	370					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGAAAGCGCTCATGGAGGGCT	0.701000													13	2					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458304	12458304	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:12458304C>A	ENST00000397026.2	+	8	1238	c.855C>A	c.(853-855)atC>atA	p.I285I	PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Silent_p.I279I|PPARG_ENST00000397012.2_Silent_p.I279I|PPARG_ENST00000397015.2_Silent_p.I279I|PPARG_ENST00000309576.6_Silent_p.I279I|PPARG_ENST00000287820.6_Silent_p.I307I			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	307					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AGGTGGCCATCCGCATCTTTC	0.468000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						66	13					1.79293e-35	2.99846e-35	1	1	0
GRM1	2911	broad.mit.edu	37	6	146755300	146755300	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:146755300G>A	ENST00000361719.2	+	9	3423	c.2953G>A	c.(2953-2955)Gcg>Acg	p.A985T	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.A985T|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	985					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGTGCCAAGCGCGGCGACCAC	0.662000													9	158					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230883296	230883296	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:230883296C>A	ENST00000354537.1	+	1	136	c.54C>A	c.(52-54)gaC>gaA	p.D18E	CAPN9_ENST00000271971.2_Missense_Mutation_p.D18E|CAPN9_ENST00000366666.2_Missense_Mutation_p.D18E|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	18					digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TTCCCAAGGACGCCCGGATCA	0.627000													96	180					1.29119e-40	2.19938e-40	1	1	0
RNF213	57674	broad.mit.edu	37	17	78333913	78333913	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:78333913G>A	ENST00000582970.1	+	38	11250	c.11107G>A	c.(11107-11109)Gag>Aag	p.E3703K	RNF213_ENST00000508628.2_Missense_Mutation_p.E3752K|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.E1776K|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAACCTTTCCGAGAACGCTTC	0.502000													11	41					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196709762	196709762	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:196709762A>T	ENST00000367429.4	+	18	3036	c.2796A>T	c.(2794-2796)aaA>aaT	p.K932N		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	932	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCCTTGTAAATCTCCACCTG	0.308000													23	78					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117047029	117047029	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:117047029T>G	ENST00000356083.3	+	41	4350	c.3959T>G	c.(3958-3960)cTt>cGt	p.L1320R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1320	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTGGGACCCCTTGGACCTCCT	0.567000													65	28					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039181	11039181	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:11039181G>T	ENST00000470054.1	-	0	1022									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTAGTGGAAGAGTGACAGAT	0.423000													13	211					0.00010058	0.000108349	1	1	0
DDX60	55601	broad.mit.edu	37	4	169173666	169173666	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:169173666G>T	ENST00000393743.3	-	27	3990	c.3699C>A	c.(3697-3699)gaC>gaA	p.D1233E		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1233	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGACCTCAGTGTCCACTGCTT	0.388000													103	23					1.32035e-51	2.30435e-51	1	1	0
FLI1	2313	broad.mit.edu	37	11	128638058	128638058	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:128638058G>T	ENST00000344954.6	+	3	565	c.177G>T	c.(175-177)gtG>gtT	p.V59V	FLI1_ENST00000281428.8_Silent_p.V26V|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000534087.1_Silent_p.V59V|FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000429175.2_Silent_p.V92V			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	92					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GCAAGCTGGTGGGCGGAGGCG	0.572000			T	EWSR1	Ewing sarcoma								10	34					2.17888e-05	2.38e-05	1	1	0
MID2	11043	broad.mit.edu	37	X	107084478	107084478	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:107084478T>A	ENST00000262843.6	+	2	1131	c.583T>A	c.(583-585)Tgc>Agc	p.C195S	MID2_ENST00000443968.2_Missense_Mutation_p.C195S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	195						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGGGATCACCTGCCTGGACCA	0.537000													4	35					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95663849	95663849	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:95663849A>G	ENST00000436874.1	+	6	838	c.733A>G	c.(733-735)Aat>Gat	p.N245D	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.N197D	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	245						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTGCCCATTTAATAAAGCTGG	0.438000													12	3					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28424369	28424369	+	Splice_Site	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:28424369T>C	ENST00000261609.7	-	58	9046	c.8937_splice	c.e58-1	p.I2980_splice		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2980					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGAACCTTTATCTACAACAGA	0.299000													42	17					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165795998	165795998	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:165795998G>A	ENST00000303735.4	-	4	595	c.265C>T	c.(265-267)Cct>Tct	p.P89S	SLC38A11_ENST00000409149.3_Missense_Mutation_p.P111S|SLC38A11_ENST00000409662.1_Missense_Mutation_p.P111S|SLC38A11_ENST00000409058.1_Missense_Mutation_p.P142S	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	111					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						AAGGATAAAGGCAGAGTAAAG	0.333000													24	102					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915925	26915925	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:26915925A>T	ENST00000231021.4	-	3	508	c.336T>A	c.(334-336)gcT>gcA	p.A112A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	112	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTTCTTTGCAGCATGAATGT	0.403000													124	68					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103018569	103018569	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:103018569A>G	ENST00000375735.2	+	19	2915	c.2771A>G	c.(2770-2772)cAg>cGg	p.Q924R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q924R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	924	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATCTCATCCAGAAGTTATTT	0.308000													59	6					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085246	9085246	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:9085246G>T	ENST00000397910.4	-	1	6772	c.6569C>A	c.(6568-6570)tCt>tAt	p.S2190Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2190	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAACCAAAGACTCTGAAGT	0.463000													22	11					8.10497e-08	9.41262e-08	1	1	0
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667000													8	20					0	0	1	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139145	90139145	+	RNA	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:90139145T>A	ENST00000492446.1	+	0	68																											GGGCTCCTGCTGCTCTGTTTC	0.498000													13	304					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583949	179583949	+	Silent	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179583949C>G	ENST00000589042.1	-	83	24392	c.24168G>C	c.(24166-24168)acG>acC	p.T8056T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.T6812T|TTN_ENST00000591111.1_Silent_p.T7739T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7739	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCCACACACGTGTATATGC	0.498000													61	86					0	0	1	0	0
COQ7	10229	broad.mit.edu	37	16	19087043	19087043	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:19087043G>T	ENST00000321998.5	+	4	434	c.367_splice	c.e4-1	p.G123_splice	COQ7_ENST00000569127.1_Splice_Site_p.G100_splice|COQ7_ENST00000568985.1_Splice_Site_p.G123_splice|COQ7_ENST00000544894.2_Splice_Site_p.G85_splice	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	123	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						ACAATCCCAGGGGCGGGGACC	0.557000													11	44					5.97227e-30	9.52878e-30	1	1	0
ADARB2	105	broad.mit.edu	37	10	1279686	1279686	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:1279686G>T	ENST00000381312.1	-	6	1788	c.1463C>A	c.(1462-1464)tCc>tAc	p.S488Y	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	488	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCACAGGGGGAGGTGCTCAC	0.562000													95	101					1.13049e-35	1.89466e-35	1	1	0
TRIM58	25893	broad.mit.edu	37	1	248028028	248028028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:248028028C>T	ENST00000366481.3	+	3	586	c.538C>T	c.(538-540)Cag>Tag	p.Q180*		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	180						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AATGCAGAGGCAGCGCTTCAG	0.587000													30	3					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74835264	74835264	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:74835264G>A	ENST00000370895.1	+	18	2000	c.1965G>A	c.(1963-1965)caG>caA	p.Q655Q	FPGT-TNNI3K_ENST00000557284.1_Silent_p.Q655Q|TNNI3K_ENST00000326637.3_Silent_p.Q554Q|TNNI3K_ENST00000370891.2_Silent_p.Q655Q|FPGT-TNNI3K_ENST00000370899.3_Silent_p.Q655Q|RP11-439H8.4_ENST00000415549.2_RNA			Q59H18	TNI3K_HUMAN		554	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TTCATGAGCAGAAGAGGTATG	0.443000													84	18					0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798226	31798226	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:31798226G>C	ENST00000390690.2	-	1	60	c.5C>G	c.(4-6)tCc>tGc	p.S2C		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	2						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						ACAGTTGTAGGACATGTTGAC	0.512000													22	125					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423440	56423440	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:56423440C>A	ENST00000588751.1	-	5	1767	c.1743G>T	c.(1741-1743)tgG>tgT	p.W581C	NLRP13_ENST00000342929.3_Missense_Mutation_p.W581C			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	581							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCACTGGAGTCCAGTAGGCTT	0.418000													82	16					2.46799e-47	4.28333e-47	1	1	0
C1orf168	199920	broad.mit.edu	37	1	57216868	57216868	+	Silent	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:57216868G>C	ENST00000343433.6	-	9	1316	c.1236C>G	c.(1234-1236)gcC>gcG	p.A412A	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	412										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCCCTTCACAGGCATCTACCT	0.423000													21	24					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25222115	25222115	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:25222115T>C	ENST00000444203.2	+	5	1410	c.371T>C	c.(370-372)aTt>aCt	p.I124T	SNRPN_ENST00000577565.1_Missense_Mutation_p.I120T|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.I120T|SNRPN_ENST00000390687.4_Missense_Mutation_p.I120T|SNRPN_ENST00000400100.1_Missense_Mutation_p.I120T|SNRPN_ENST00000346403.6_Missense_Mutation_p.I120T|SNRPN_ENST00000400098.1_Missense_Mutation_p.I120T|SNRPN_ENST00000554227.2_Missense_Mutation_p.I124T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	120					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGTGTGCCAATTCCCCAGGCC	0.582000									Prader-Willi syndrome				23	79					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20569197	20569197	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:20569197A>T	ENST00000504154.1	+	28	3159	c.2907A>T	c.(2905-2907)ggA>ggT	p.G969G	SLIT2_ENST00000503823.1_Silent_p.G961G|SLIT2_ENST00000273739.5_Silent_p.G973G|SLIT2_ENST00000503837.1_Silent_p.G965G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	969	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTAAACATGGAGGAACTTGCC	0.453000													20	37					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88249242	88249242	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:88249242G>C	ENST00000518476.1	+	6	724	c.673G>C	c.(673-675)Gac>Cac	p.D225H	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	225										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGATTCACCAGACTCGTTCAT	0.383000													22	79					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13033588	13033588	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:13033588G>A	ENST00000588025.1	-	14	1761	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	FARSA_ENST00000423140.2_Missense_Mutation_p.P470S|FARSA_ENST00000314606.4_Missense_Mutation_p.P501S			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	501					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GTGGGAGGGGGCCTCGGCTCG	0.617000													41	75					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10303909	10303909	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:10303909C>G	ENST00000403437.2	-	27	3627	c.3533G>C	c.(3532-3534)cGc>cCc	p.R1178P	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1178					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGGTCCCTGCGCAGTTTCTG	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				98	98					0	0	1	0	0
PCYT1A	5130	broad.mit.edu	37	3	195965623	195965623	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:195965623G>A	ENST00000292823.2	-	10	1212	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	PCYT1A_ENST00000431016.1_Missense_Mutation_p.S347F|PCYT1A_ENST00000419333.1_Missense_Mutation_p.S347F	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	347	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	ATTTGCTGGGGAGCAAGGTGG	0.582000													65	122					0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37815753	37815753	+	Nonstop_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:37815753T>A	ENST00000326524.2	-	3	835	c.636A>T	c.(634-636)tgA>tgT	p.*212C	GDNF_ENST00000427982.1_Nonstop_Mutation_p.*229C|GDNF_ENST00000344622.4_Nonstop_Mutation_p.*186C|GDNF_ENST00000381826.4_Nonstop_Mutation_p.*203C|GDNF_ENST00000515058.1_Nonstop_Mutation_p.*186C	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	0					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GGAGCCGGAGTCAGATACATC	0.463000													34	63					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191637	152191637	+	Missense_Mutation	SNP	C	C	A	rs141959057	by1000genomes	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152191637C>A	ENST00000368801.2	-	3	2543	c.2468G>T	c.(2467-2469)gGc>gTc	p.G823V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	823					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTGAGCCAGACTCGTG	0.567000													4	118					1.23904e-05	1.36487e-05	1	1	0
IL5RA	3568	broad.mit.edu	37	3	3139623	3139623	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:3139623G>T	ENST00000446632.2	-	7	1214	c.640C>A	c.(640-642)Ctt>Att	p.L214I	IL5RA_ENST00000418488.2_Missense_Mutation_p.L214I|IL5RA_ENST00000311981.8_Missense_Mutation_p.L214I|IL5RA_ENST00000256452.3_Missense_Mutation_p.L214I|IL5RA_ENST00000383846.1_Missense_Mutation_p.L214I|IL5RA_ENST00000430514.2_Missense_Mutation_p.L214I|IL5RA_ENST00000438560.1_Missense_Mutation_p.L214I|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000456302.1_Missense_Mutation_p.L214I	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	214					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCGTTAACAAGCACCGCAAGC	0.493000													50	23					8.68246e-10	1.04726e-09	1	1	0
TIGD4	201798	broad.mit.edu	37	4	153691101	153691101	+	Silent	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:153691101T>C	ENST00000304337.2	-	2	1876	c.1056A>G	c.(1054-1056)ctA>ctG	p.L352L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	352	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTGCATCTAGTAGTGAAAATG	0.358000													36	37					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94858952	94858952	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:94858952C>A	ENST00000358746.2	-	18	2009	c.1711G>T	c.(1711-1713)Gga>Tga	p.G571*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	571							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TAGTATAGTCCTCGCCTAAGC	0.393000													74	123					9.42754e-34	1.555e-33	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													4	96					0.00024832	0.000264943	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3000069	3000069	+	Silent	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:3000069C>G	ENST00000520002.1	-	42	6717	c.6162G>C	c.(6160-6162)ctG>ctC	p.L2054L	CSMD1_ENST00000602723.1_Silent_p.L2054L|CSMD1_ENST00000602557.1_Silent_p.L2054L|CSMD1_ENST00000537824.1_Silent_p.L2053L|CSMD1_ENST00000542608.1_Silent_p.L2053L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Silent_p.L2054L|CSMD1_ENST00000539096.1_Silent_p.L2053L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2054	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGTGCTCAGCAGGGCCGCGG	0.478000													24	15					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922349	43922349	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:43922349G>T	ENST00000602198.1	+	8	1046	c.604G>T	c.(604-606)Ggc>Tgc	p.G202C	TEX101_ENST00000253435.7_Missense_Mutation_p.G202C|TEX101_ENST00000598265.1_Missense_Mutation_p.G184C|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	184						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGAGGTCAAAGGCTGTACAGC	0.522000													51	48					5.12918e-33	8.38052e-33	1	1	0
TTN	7273	broad.mit.edu	37	2	179481478	179481478	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179481478C>T	ENST00000589042.1	-	256	48362	c.48138G>A	c.(48136-48138)ggG>ggA	p.G16046G	TTN_ENST00000359218.5_Silent_p.G7106G|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.G13478G|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.G14405G|TTN_ENST00000460472.2_Silent_p.G6981G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.G7173G|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14405	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAATTTCCCCAGAAATTG	0.358000													28	182					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39735403	39735403	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:39735403C>A	ENST00000395670.3	-	14	2244	c.1825G>T	c.(1825-1827)Gat>Tat	p.D609Y	KIF21A_ENST00000361418.5_Missense_Mutation_p.D609Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.D596Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.D596Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.D596Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	609					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				tcctcATGATCACTCACTTCT	0.403000													10	5					2.17888e-05	2.38e-05	1	1	0
UNC93A	54346	broad.mit.edu	37	6	167728758	167728758	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:167728758G>C	ENST00000230256.3	+	8	1367	c.1192G>C	c.(1192-1194)Gcc>Ccc	p.A398P	UNC93A_ENST00000366829.2_Missense_Mutation_p.A356P	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	398						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTCGTCATTGCCTTCGGGTA	0.577000													17	388					0	0	1	0	0
IFNL3	282617	broad.mit.edu	37	19	39734683	39734683	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:39734683T>C	ENST00000413851.2	-	3	411	c.373A>G	c.(373-375)Acc>Gcc	p.T125A		NM_172139.2	NP_742151.2			interferon, lambda 3																		TGGTGCAGGGTGTGAAGGGGC	0.657000													27	62					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32740035	32740035	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:32740035G>T	ENST00000333070.4	+	2	205	c.105_splice	c.e2+1	p.T35_splice	LCK_ENST00000336890.5_Splice_Site_p.T35_splice|LCK_ENST00000373564.3_Splice_Site_p.T35_splice	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	35	Interactions with CD4 and CD8 (By similarity).			T -> R (in Ref. 2; AAA59502).	activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GCAAGGGCACGGTAAGAGGCG	0.532000			T	TRB@	T-ALL								17	44					2.94398e-08	3.44974e-08	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173322696	173322696	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:173322696C>A	ENST00000457714.1	+	3	737	c.308C>A	c.(307-309)cCc>cAc	p.P103H	NLGN1_ENST00000545397.1_Missense_Mutation_p.P103H|NLGN1_ENST00000401917.3_Missense_Mutation_p.P103H|NLGN1_ENST00000361589.4_Missense_Mutation_p.P103H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	103					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCACCATCTCCCTGGTCAGAT	0.463000													122	162					1.19401e-59	2.12177e-59	1	1	0
TREML2	79865	broad.mit.edu	37	6	41162354	41162354	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:41162354G>T	ENST00000483722.1	-	3	779	c.594C>A	c.(592-594)acC>acA	p.T198T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	198					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCCCTGGCTGGTGGTGCTGG	0.597000													88	34					1.55521e-42	2.68127e-42	1	1	0
PCDH8	5100	broad.mit.edu	37	13	53422161	53422161	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:53422161C>A	ENST00000377942.3	-	1	614	c.411G>T	c.(409-411)agG>agT	p.R137S	PCDH8_ENST00000338862.4_Missense_Mutation_p.R137S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	137	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGATCTGGGCCCTGGGGAAGC	0.682000													13	26					1.5739e-10	1.92818e-10	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299276	125299276	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:125299276C>A	ENST00000538699.1	-	2	712	c.632G>T	c.(631-633)gGc>gTc	p.G211V	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G211V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	211										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTCGCGGGAGCCGCTCACAGC	0.647000													21	50					3.51602e-12	4.43262e-12	1	1	0
MYH4	4622	broad.mit.edu	37	17	10363594	10363594	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:10363594G>T	ENST00000255381.2	-	13	1302	c.1192C>A	c.(1192-1194)Ctg>Atg	p.L398M	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	398	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GATTTGAGCAGGTCAGCAGAG	0.438000													40	66					8.16277e-20	1.16975e-19	1	1	0
MYOM1	8736	broad.mit.edu	37	18	3075456	3075456	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:3075456C>G	ENST00000356443.4	-	36	5037	c.4704G>C	c.(4702-4704)gaG>gaC	p.E1568D	MYOM1_ENST00000400569.3_Intron|MYOM1_ENST00000261606.7_Missense_Mutation_p.E1472D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1568						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACTTACTTTTCTCGGCAATGG	0.338000													4	289					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909088	123909088	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:123909088C>T	ENST00000330487.5	-	1	629	c.621G>A	c.(619-621)tcG>tcA	p.S207S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAAAGCAGCCCGAGGCCACTA	0.557000													182	26					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326677	152326677	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152326677A>T	ENST00000388718.5	-	3	3657	c.3585T>A	c.(3583-3585)caT>caA	p.H1195Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1195	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCAGATATATGTTGTCCAG	0.483000													40	160					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922791	150922791	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:150922791C>A	ENST00000261800.5	-	9	7909	c.7897G>T	c.(7897-7899)Gtc>Ttc	p.V2633F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2633	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTCAATGACATCTTTAACT	0.468000													48	99					8.48111e-28	1.3274e-27	1	1	0
MFN1	55669	broad.mit.edu	37	3	179082089	179082089	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:179082089G>T	ENST00000471841.1	+	6	667	c.541G>T	c.(541-543)Ggc>Tgc	p.G181C	MFN1_ENST00000280653.7_Missense_Mutation_p.G181C|MFN1_ENST00000263969.5_Missense_Mutation_p.G181C	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	181					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATTAGTCCAGGCACAGATGT	0.308000													36	46					1.06647e-15	1.42867e-15	1	1	0
F8	2157	broad.mit.edu	37	X	154213044	154213044	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:154213044C>G	ENST00000360256.4	-	6	905	c.705G>C	c.(703-705)ttG>ttC	p.L235F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	235	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TATCCTGCATCAAGGAGTTCT	0.488000													39	27					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122747329	122747329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:122747329G>T	ENST00000245838.8	-	36	4629	c.4598C>A	c.(4597-4599)tCa>tAa	p.S1533*	THOC2_ENST00000355725.4_Nonsense_Mutation_p.S1533*|THOC2_ENST00000491737.1_Nonsense_Mutation_p.S1418*|THOC2_ENST00000464992.1_5'UTR	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1533	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGAAGATTTTGACTTATTTTT	0.323000													33	37					3.90053e-15	5.16762e-15	1	1	0
MSR1	4481	broad.mit.edu	37	8	16032714	16032714	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:16032714G>T	ENST00000350896.3	-	3	396	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.L85I|MSR1_ENST00000381998.4_Missense_Mutation_p.L67I|MSR1_ENST00000355282.2_Missense_Mutation_p.L67I|MSR1_ENST00000262101.5_Missense_Mutation_p.L67I	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	67					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTCCAATGAGAGGGATGAGA	0.418000													24	11					5.45024e-15	7.20243e-15	1	1	0
PSPC1	55269	broad.mit.edu	37	13	20279942	20279942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:20279942G>A	ENST00000338910.4	-	8	1405	c.1246C>T	c.(1246-1248)Caa>Taa	p.Q416*		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	416	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	p.Q416*(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGAGGACCTTGGTTACCAGCA	0.443000													21	137					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113349026	113349026	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:113349026C>A	ENST00000297405.5	-	44	7118	c.6874G>T	c.(6874-6876)Ggc>Tgc	p.G2292C	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2252C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2188C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2222C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2292	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAATGGTGCCATTCATTGCA	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			58	41					2.14255e-21	3.15128e-21	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24921761	24921761	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:24921761C>A	ENST00000329468.2	+	1	1221	c.747C>A	c.(745-747)gcC>gcA	p.A249A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCGGATGTGCCCGGCATCTTG	0.622000													13	52					1.49906e-05	1.6478e-05	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133960998	133960998	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:133960998C>A	ENST00000361069.4	+	25	4251	c.4118C>A	c.(4117-4119)aCg>aAg	p.T1373K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1373	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTTGCAGACACGAGAAAGAAG	0.592000													24	52					0.00395357	0.00411151	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23522515	23522515	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:23522515G>T	ENST00000296682.3	+	7	792		c.e7+1			NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GATTACCTCTGTAAGTGACAC	0.438000										HNSCC(3;0.000094)			36	123					3.93418e-24	5.96042e-24	1	1	0
SLC22A12	116085	broad.mit.edu	37	11	64361127	64361127	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:64361127C>A	ENST00000377574.1	+	4	1429	c.682C>A	c.(682-684)Cgg>Agg	p.R228R	SLC22A12_ENST00000473690.1_Silent_p.R7R|SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000336464.7_Silent_p.R194R|SLC22A12_ENST00000377567.2_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	228					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GACGGCGGCACGGGCCCGACC	0.642000													12	54					0.00185496	0.00195114	1	1	0
FAM189B	10712	broad.mit.edu	37	1	155217713	155217713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:155217713C>A	ENST00000361361.2	-	12	2376	c.1867G>T	c.(1867-1869)Gag>Tag	p.E623*	FAM189B_ENST00000350210.2_Nonsense_Mutation_p.E527*|FAM189B_ENST00000368368.3_Nonsense_Mutation_p.E605*	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	623						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGAGGCTCTCTCGGCCAGGC	0.637000													21	28					1.64113e-05	1.80271e-05	1	1	0
IL1RL1	9173	broad.mit.edu	37	2	102959635	102959635	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:102959635A>G	ENST00000311734.2	+	7	1161	c.822A>G	c.(820-822)caA>caG	p.Q274Q	IL1RL1_ENST00000404917.2_Silent_p.Q157Q|IL1RL1_ENST00000409584.1_Silent_p.Q260Q|IL1RL1_ENST00000233954.1_Silent_p.Q274Q			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	274	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGCAAAATCAAAGGTATTTTT	0.413000													35	123					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920082	10920082	+	Splice_Site	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:10920082A>G	ENST00000298232.7	-	18	1484		c.e18+1		TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000361285.4_Splice_Site	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGAAAACTTACCTGAGAAGG	0.383000													7	32					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530452	80530452	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:80530452T>G	ENST00000295057.3	-	2	1149	c.493A>C	c.(493-495)Acg>Ccg	p.T165P	LRRTM1_ENST00000409148.1_Missense_Mutation_p.T165P|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	165						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ATATGCAGCGTGGTGAGCTTC	0.622000										HNSCC(69;0.2)			47	57					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390579	48390579	+	Missense_Mutation	SNP	G	G	A	rs143076262	byFrequency	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:48390579G>A	ENST00000224600.4	-	1	412	c.299C>T	c.(298-300)cCa>cTa	p.P100L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	100	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGGACTTGTGGGGGAGGCTC	0.637000													104	131					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747909	94747909	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:94747909C>A	ENST00000399300.2	-	3	943	c.730G>T	c.(730-732)Ggt>Tgt	p.G244C	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.G244C	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	244							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGAACGTCACCCTCCTTAACT	0.378000													30	97					2.85442e-18	3.9632e-18	1	1	0
RB1CC1	9821	broad.mit.edu	37	8	53558271	53558271	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:53558271C>A	ENST00000025008.5	-	16	4501	c.3978G>T	c.(3976-3978)gcG>gcT	p.A1326A	RB1CC1_ENST00000539297.1_Silent_p.A1326A|RB1CC1_ENST00000435644.2_Silent_p.A1326A|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1326					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CCTGTTGTTCCGCAATCAAAG	0.318000													17	30					3.41278e-10	4.14523e-10	1	1	0
SLC27A3	11000	broad.mit.edu	37	1	153752300	153752300	+	Splice_Site	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:153752300A>C	ENST00000271857.2	+	10	3019		c.e10-1		SLC27A3_ENST00000368661.3_Splice_Site|SLC27A3_ENST00000484014.1_Splice_Site			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCTGTCCCCAGGAGTCTTTG	0.552000													68	68					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43032146	43032146	+	Splice_Site	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:43032146G>A	ENST00000428554.2	+	13	1998	c.855_splice	c.e13+1	p.K285_splice	CCDC30_ENST00000342022.4_Splice_Site_p.K285_splice|CCDC30_ENST00000507855.1_Splice_Site_p.K74_splice|CCDC30_ENST00000390640.4_Splice_Site_p.K74_splice|CCDC30_ENST00000340612.4_Splice_Site_p.K285_splice			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	285										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAAACATTAAGGTAACTCTTG	0.393000													27	71					0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387628	3387628	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:3387628C>A	ENST00000011898.5	+	4	266	c.105C>A	c.(103-105)tcC>tcA	p.S35S	TSPAN9_ENST00000537971.1_Silent_p.S35S|TSPAN9_ENST00000407263.1_Silent_p.S35S|TSPAN9_ENST00000492305.1_3'UTR	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	35						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TCTGGCTCTCCGTGTCCCAAG	0.587000													4	143					1	1	1	1	0
MMP16	4325	broad.mit.edu	37	8	89086855	89086855	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:89086855G>T	ENST00000286614.6	-	7	1481	c.1200C>A	c.(1198-1200)gaC>gaA	p.D400E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	400	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CAAAATTCCCGTCGCTATTTT	0.403000													18	66					6.49762e-13	8.28513e-13	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14848862	14848862	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:14848862C>T	ENST00000358984.4	+	34	3152	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1076										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTGTCAGAAGCGAAAGAAATA	0.328000													18	16					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34182894	34182894	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:34182894G>C	ENST00000297161.2	+	15	2172	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	BMPER_ENST00000426693.1_Missense_Mutation_p.E600Q	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	600					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTGTTATTGCGAGTCATTTTT	0.443000													26	154					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	62016468	62016468	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:62016468A>T	ENST00000332981.5	+	14	2356	c.1971A>T	c.(1969-1971)ccA>ccT	p.P657P	PRKCH_ENST00000555082.1_Silent_p.P496P|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Intron	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	657	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TTTTAACTCCAATTGATGAGG	0.398000													82	21					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176053	140176053	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140176053C>A	ENST00000526136.1	+	1	1504	c.1504C>A	c.(1504-1506)Cgc>Agc	p.R502S	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R502S|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R502S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGAGCGCGCGTTGTC	0.682000													33	69					3.90053e-15	5.16762e-15	1	1	0
GSX2	170825	broad.mit.edu	37	4	54967887	54967887	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:54967887A>T	ENST00000326902.2	+	2	1027	c.713A>T	c.(712-714)tAc>tTc	p.Y238F	GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	238						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			ATCGCCACTTACCTGAACCTG	0.547000													58	132					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157772181	157772181	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:157772181C>A	ENST00000358292.3	-	4	644	c.593G>T	c.(592-594)aGc>aTc	p.S198I	FCRL1_ENST00000491942.1_Missense_Mutation_p.S198I|FCRL1_ENST00000368176.3_Missense_Mutation_p.S198I|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	198	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACAGTGATGCTCACCAGCCC	0.517000													45	260					1.23713e-20	1.79591e-20	1	1	0
SLC13A4	26266	broad.mit.edu	37	7	135384243	135384243	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:135384243C>T	ENST00000354042.4	-	8	1454	c.765G>A	c.(763-765)aaG>aaA	p.K255K		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	255						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGGACCTGTACTTTCTGTTCA	0.547000													21	69					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34638223	34638223	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:34638223G>T	ENST00000537011.1	+	2	469	c.87G>T	c.(85-87)atG>atT	p.M29I	NUTM1_ENST00000438749.3_Intron|NUTM1_ENST00000333756.4_Start_Codon_SNP_p.M1I					NUT midline carcinoma, family member 1																		CTGAGAGGATGGCTTCAGATG	0.532000													25	60					2.4375e-19	3.45183e-19	1	1	0
OR4N5	390437	broad.mit.edu	37	14	20612201	20612201	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:20612201T>C	ENST00000333629.1	+	1	307	c.307T>C	c.(307-309)Ttc>Ctc	p.F103L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCAGCTCTTTTTCTTGCATTT	0.483000													56	226					0	0	1	0	0
FAM153A	285596	broad.mit.edu	37	5	177156524	177156524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:177156524C>A	ENST00000440605.3	-	16	947	c.664G>T	c.(664-666)Gag>Tag	p.E222*	FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000510276.1_Nonsense_Mutation_p.E222*	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	222										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGTCTGCTCTGGCACATGC	0.483000													66	136					1.05635e-38	1.7935e-38	1	1	0
B4GALNT4	338707	broad.mit.edu	37	11	380882	380882	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:380882G>T	ENST00000329962.6	+	19	2927	c.2927G>T	c.(2926-2928)cGg>cTg	p.R976L		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	976						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACTTTGACCGGGTTGGAGGA	0.607000													7	20					0.00198382	0.00207273	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22807622	22807622	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:22807622G>A	ENST00000361524.3	-	4	408	c.260C>T	c.(259-261)cCa>cTa	p.P87L	ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.P87L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	87					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGAGGAAGCTGGCCAAGAGCA	0.483000			T	PAX5	ALL								42	29					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128863	83128863	+	Missense_Mutation	SNP	G	G	T	rs143448675	byFrequency	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:83128863G>T	ENST00000329312.4	+	4	1184	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	383					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGCAAGAAATGATTCAAGAAA	0.333000													7	7					3.09899e-07	3.55144e-07	1	1	0
WBP11	51729	broad.mit.edu	37	12	14943496	14943496	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:14943496C>A	ENST00000261167.2	-	10	1436	c.1203G>T	c.(1201-1203)caG>caT	p.Q401H	WBP11_ENST00000537574.1_Missense_Mutation_p.Q401H	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	401	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GTGCTTGTATCTGAGAAGGAG	0.567000													58	14					5.47352e-35	9.10505e-35	1	1	0
HRH1	3269	broad.mit.edu	37	3	11301854	11301854	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:11301854G>T	ENST00000397056.1	+	3	1322	c.1131G>T	c.(1129-1131)agG>agT	p.R377S	HRH1_ENST00000431010.2_Missense_Mutation_p.R377S|HRH1_ENST00000438284.2_Missense_Mutation_p.R377S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	377					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GCAAATTGAGGAGTGGGTCTA	0.488000													52	11					6.27289e-28	9.83761e-28	1	1	0
GRIP2	80852	broad.mit.edu	37	3	14567024	14567024	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:14567024C>A	ENST00000273083.3	-	0	242							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TAGTCAGGCCCAGCGTGCTGC	0.612000													84	13					1.68737e-39	2.8711e-39	1	1	0
PCSK1	5122	broad.mit.edu	37	5	95761523	95761523	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:95761523C>A	ENST00000311106.3	-	3	634		c.e3+1		PCSK1_ENST00000508626.1_Splice_Site|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1						cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGGTACTTACCAAGTACCAT	0.388000													15	20					1.15919e-05	1.28052e-05	1	1	0
ZNF780B	163131	broad.mit.edu	37	19	40541746	40541746	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:40541746C>A	ENST00000434248.1	-	5	1085	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	ZNF780B_ENST00000221355.6_Missense_Mutation_p.K192N	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGTAAAGGCCTTTCTGCATT	0.438000													35	7					1.36615e-20	1.98136e-20	1	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209125	140209125	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140209125C>G	ENST00000529310.1	+	1	1563	c.1449C>G	c.(1447-1449)gaC>gaG	p.D483E	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D483E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACGCGGACGCGCAGGAGA	0.662000													46	68					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641821	129641821	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:129641821G>A	ENST00000319119.4	+	2	228	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	ZBTB34_ENST00000373452.2_Missense_Mutation_p.R44Q	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	44	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CAGCCATTCCGAGCCCACAAA	0.512000													40	69					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579542	43579542	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:43579542C>G	ENST00000406487.1	-	3	771	c.673G>C	c.(673-675)Gcc>Ccc	p.A225P		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	225	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CTGCGGCTGGCACTCCCTGAG	0.517000													346	73					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884888	13884888	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:13884888G>A	ENST00000327606.3	-	2	810	c.630C>T	c.(628-630)ctC>ctT	p.L210L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	210					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGGCTCTGGGGAGGGTGGAGA	0.562000													53	68					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767460	31767460	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:31767460T>A	ENST00000240587.4	-	2	3566	c.3239A>T	c.(3238-3240)aAg>aTg	p.K1080M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1080					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGCTACTGCTTCTCTAACTC	0.473000													65	20					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229205	21229205	+	Missense_Mutation	SNP	G	G	T	rs145861016		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:21229205G>T	ENST00000233242.1	-	26	10662	c.10535C>A	c.(10534-10536)aCt>aAt	p.T3512N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3512	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTAGCAATAGTTCCTGAATA	0.443000													70	102					1.1794e-34	1.95566e-34	1	1	0
MARCH9	92979	broad.mit.edu	37	12	58152054	58152054	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:58152054T>A	ENST00000266643.5	+	3	1108	c.677T>A	c.(676-678)aTg>aAg	p.M226K	MARCH9_ENST00000548358.1_Missense_Mutation_p.M113K	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	226						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TGCTACGGCATGTATGGCTTC	0.542000													28	6					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25538110	25538110	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:25538110C>G	ENST00000329474.6	+	25	2463	c.2095C>G	c.(2095-2097)Caa>Gaa	p.Q699E		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	699					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGTGAAAGTACAAGATCATCT	0.438000													7	24					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88476424	88476424	+	Silent	SNP	G	G	T	rs149423035	byFrequency	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:88476424G>T	ENST00000429277.2	+	10	1732	c.1587G>T	c.(1585-1587)gcG>gcT	p.A529A	LDB3_ENST00000352360.5_Silent_p.A267A|LDB3_ENST00000361373.4_Silent_p.A524A|LDB3_ENST00000458213.2_Silent_p.A414A|LDB3_ENST00000263066.6_Silent_p.A414A	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	524						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ACACCCCAGCGGGTCCTCAGG	0.637000													57	38					4.6707e-30	7.47503e-30	1	1	0
ATP10B	23120	broad.mit.edu	37	5	159992576	159992576	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:159992576C>A	ENST00000327245.5	-	26	5116	c.4270G>T	c.(4270-4272)Ggg>Tgg	p.G1424W		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1424					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G1424W(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTGCTCCCCGGATGAGAGT	0.557000													33	64					7.16026e-08	8.34651e-08	1	1	0
BNC2	54796	broad.mit.edu	37	9	16437217	16437217	+	Missense_Mutation	SNP	G	G	T	rs138237578		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:16437217G>T	ENST00000380672.4	-	6	1032	c.975C>A	c.(973-975)ttC>ttA	p.F325L	BNC2_ENST00000545497.1_Missense_Mutation_p.F230L|BNC2_ENST00000380666.2_Missense_Mutation_p.F325L|BNC2_ENST00000380667.2_Missense_Mutation_p.F258L	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTATGTACTGGAATGGAAGCA	0.512000													196	33					1.42079e-92	2.56861e-92	1	1	0
CALB1	793	broad.mit.edu	37	8	91081256	91081256	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:91081256G>T	ENST00000265431.3	-	5	523	c.342C>A	c.(340-342)caC>caA	p.H114Q	CALB1_ENST00000518457.1_Missense_Mutation_p.H57Q	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	114	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding	p.H114Q(1)		breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGAAGCCACTGTGGTCAGTAT	0.318000													14	15					0.000219431	0.000235245	1	1	0
RBP3	5949	broad.mit.edu	37	10	48390082	48390082	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:48390082G>T	ENST00000224600.4	-	1	909	c.796C>A	c.(796-798)Ctc>Atc	p.L266I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	266	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCTTCCGGAGGTCCAGGGCC	0.677000													20	32					8.34094e-07	9.42049e-07	1	1	0
C4orf17	84103	broad.mit.edu	37	4	100434274	100434274	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:100434274C>A	ENST00000514652.1	+	2	390	c.36C>A	c.(34-36)atC>atA	p.I12I	C4orf17_ENST00000326581.4_Silent_p.I12I			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	12										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CTCTTCAGATCGAGGGCAAAG	0.463000													37	43					2.42023e-17	3.30744e-17	1	1	0
CCKAR	886	broad.mit.edu	37	4	26487335	26487335	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:26487335G>T	ENST00000295589.3	-	3	744	c.550C>A	c.(550-552)Cct>Act	p.P184T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	184					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTGGTAAAAGGCACCAAGTTG	0.438000													14	34					6.31663e-08	7.36861e-08	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274127	39274127	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:39274127G>T	ENST00000391413.2	-	1	479	c.441C>A	c.(439-441)ccC>ccA	p.P147P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	147	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cacagcaagaggggcggcagc	0.652000													24	19					6.32553e-13	8.1054e-13	1	1	0
PCDHB16	57717	broad.mit.edu	37	5	140562342	140562342	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140562342G>C	ENST00000361016.2	+	1	1363	c.208G>C	c.(208-210)Ggg>Cgg	p.G70R		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		70	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTTCCCAGGGGAACAAACA	0.512000													30	45					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108357185	108357185	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:108357185C>A	ENST00000263054.6	-	24	3196	c.3189G>T	c.(3187-3189)acG>acT	p.T1063T	SORCS1_ENST00000344440.6_Silent_p.T1063T|SORCS1_ENST00000369698.1_Silent_p.T598T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1063						integral to membrane	neuropeptide receptor activity|protein binding	p.T1063T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTTGGTTGAGCGTGTGGATCA	0.433000													5	45					0.0215528	0.0219892	1	1	0
ZDHHC20	253832	broad.mit.edu	37	13	21955661	21955661	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:21955661G>C	ENST00000400590.3	-	11	1170	c.972C>G	c.(970-972)atC>atG	p.I324M	ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.I261M|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.I324M|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.I323M|ZDHHC20_ENST00000320220.9_3'UTR			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	324						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TAAGTGGTTTGATAGGAAAAG	0.378000													9	30					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237955569	237955569	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:237955569T>A	ENST00000366574.2	+	94	14045	c.13728T>A	c.(13726-13728)gcT>gcA	p.A4576A	RYR2_ENST00000542537.1_Silent_p.A4560A|RYR2_ENST00000360064.6_Silent_p.A4582A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4576					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTATCTTAGCTATTCTGCACA	0.473000													13	30					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26388484	26388484	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:26388484T>G	ENST00000356709.4	+	4	797	c.686T>G	c.(685-687)cTg>cGg	p.L229R	BTN2A2_ENST00000416795.2_Missense_Mutation_p.L229R|BTN2A2_ENST00000469230.1_Missense_Mutation_p.L229R|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000352867.2_Missense_Mutation_p.L113R|BTN2A2_ENST00000482536.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	229	Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AACAACACCCTGCTCGGCCAG	0.502000													51	239					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36083909	36083909	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:36083909C>A	ENST00000303965.4	-	30	4998		c.e30-1			NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CAATCCCCAGCTGCATCACAT	0.323000													5	2					0.014758	0.0150963	1	1	0
WTAPP1	100288077	broad.mit.edu	37	11	102702831	102702831	+	RNA	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:102702831A>T	ENST00000525739.2	+	0	1394					NR_038390.1																						TACGCCTGGTAGGTAAACTCT	0.478000													8	4					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77225100	77225100	+	Silent	SNP	G	G	T	rs146081312	by1000genomes	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:77225100G>T	ENST00000458128.1	-	1	35	c.36C>A	c.(34-36)ggC>ggA	p.G12G	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	12					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	p.G12G(1)		endometrium(2)|lung(4)	6						ATGTGCTCTCGCCGTGCCGGA	0.582000													25	87					1.77063e-15	2.36185e-15	1	1	0
RP2	6102	broad.mit.edu	37	X	46713481	46713481	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:46713481C>T	ENST00000218340.3	+	2	834	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	225					cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						TCCAATATCCCGGGGTCAGAG	0.428000													4	39					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862496	122862496	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:122862496C>A	ENST00000358808.2	-	3	251	c.97G>T	c.(97-99)Gta>Tta	p.V33L	CLIP1_ENST00000302528.7_Missense_Mutation_p.V33L|CLIP1_ENST00000540338.1_Missense_Mutation_p.V33L|CLIP1_ENST00000537178.1_Missense_Mutation_p.V33L|CLIP1_ENST00000361654.4_Missense_Mutation_p.V33L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	33					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTTTTTTCTACTGGAGCTACA	0.398000													114	27					4.70087e-54	8.25957e-54	1	1	0
OR4C16	219428	broad.mit.edu	37	11	55339945	55339945	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:55339945C>T	ENST00000314634.3	+	1	342	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCATCCTCATCCTCACGGCTG	0.507000													53	116					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133426	57133426	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:57133426C>T	ENST00000328070.6	+	3	1005	c.771C>T	c.(769-771)ctC>ctT	p.L257L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	257						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACATGCACCTCATCGTGCACC	0.657000													29	41					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82786237	82786237	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:82786237G>T	ENST00000265077.3	+	3	956	c.391G>T	c.(391-393)Gac>Tac	p.D131Y	VCAN_ENST00000343200.5_Missense_Mutation_p.D131Y|VCAN_ENST00000342785.4_Missense_Mutation_p.D131Y|VCAN_ENST00000502527.2_Missense_Mutation_p.D131Y|VCAN_ENST00000513984.1_Missense_Mutation_p.D131Y|VCAN_ENST00000512590.2_Missense_Mutation_p.D83Y	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	131	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.D131Y(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTACCGCTGTGACGTCATGTA	0.522000													30	63					2.48696e-23	3.74964e-23	1	1	0
KLHL14	57565	broad.mit.edu	37	18	30350008	30350008	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:30350008C>A	ENST00000359358.4	-	2	985	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	KLHL14_ENST00000358095.4_Missense_Mutation_p.V183L|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	183						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TAGTTCTGCACCGAGATCTGG	0.602000													30	56					2.2171e-23	3.346e-23	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109345601	109345601	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:109345601G>C	ENST00000283195.6	+	2	212	c.86G>C	c.(85-87)gGa>gCa	p.G29A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	29					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAATGAAAGGATTCTATTTT	0.244000													19	24					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79985276	79985276	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:79985276G>T	ENST00000306688.3	+	7	1131	c.789G>T	c.(787-789)atG>atT	p.M263I		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	263						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCGACTTGATGGAGACTATTG	0.627000													28	172					6.04164e-23	9.06537e-23	1	1	0
ZFR2	23217	broad.mit.edu	37	19	3834935	3834935	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:3834935T>C	ENST00000262961.4	-	2	110	c.100A>G	c.(100-102)Act>Gct	p.T34A	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	34						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGTTGTGCAGTATAGCTGGCC	0.647000													12	5					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001210	142001210	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142001210C>A	ENST00000455382.2	+	0	376																											ATCCGGTCCACAAAGCTGGAG	0.448000													10	21					0.000442599	0.00047094	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33588541	33588541	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:33588541G>C	ENST00000404816.2	+	29	4708	c.4355G>C	c.(4354-4356)tGt>tCt	p.C1452S	LTBP1_ENST00000354476.3_Missense_Mutation_p.C1453S|LTBP1_ENST00000272273.5_Missense_Mutation_p.C350S|LTBP1_ENST00000407925.1_Missense_Mutation_p.C1126S|LTBP1_ENST00000390003.4_Missense_Mutation_p.C1127S|LTBP1_ENST00000402934.1_Missense_Mutation_p.C1071S|LTBP1_ENST00000418533.2_Missense_Mutation_p.C1084S|LTBP1_ENST00000404525.1_Missense_Mutation_p.C1073S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1452	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAATGCTACTGTAAGCAAGGG	0.398000													84	77					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25589742	25589742	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:25589742G>T	ENST00000269141.3	-	5	1064	c.641C>A	c.(640-642)cCc>cAc	p.P214H	CDH2_ENST00000399380.3_Missense_Mutation_p.P183H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	214	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACCCGAGATGGGGTTGATAAT	0.493000													23	67					5.35047e-06	5.9399e-06	1	1	0
SIRT7	51547	broad.mit.edu	37	17	79871984	79871984	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:79871984C>G	ENST00000328666.6	-	8	938	c.876G>C	c.(874-876)aaG>aaC	p.K292N		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	292	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGATGTAAAGCTTCGGCCGCC	0.577000													30	73					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935591	30935591	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:30935591C>T	ENST00000355537.3	+	2	1269	c.1122C>T	c.(1120-1122)tgC>tgT	p.C374C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTGAGCACTGCTGCCAGATCT	0.597000													9	139					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139163143	139163143	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:139163143C>A	ENST00000280612.5	-	1	360	c.81G>T	c.(79-81)ctG>ctT	p.L27L		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	27					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CCTTGTTGCCCAGGGAAGGCA	0.532000													32	40					1.45844e-13	1.89052e-13	1	1	0
DST	667	broad.mit.edu	37	6	56471670	56471670	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:56471670T>A	ENST00000370754.5	-	39	7656	c.7657A>T	c.(7657-7659)Agt>Tgt	p.S2553C	DST_ENST00000361203.3_Missense_Mutation_p.S2375C|DST_ENST00000370769.4_Missense_Mutation_p.S2375C|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S2049C|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S2375C			Q03001	DYST_HUMAN	dystonin	2375					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCACTAGCACTGATGGTTTCA	0.408000													74	49					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840873	128840873	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:128840873C>A	ENST00000310343.9	-	22	4192	c.4193G>T	c.(4192-4194)cGc>cTc	p.R1398L	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1049L|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1049L|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1398	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGACTCGGCGCGCAGGTGCAG	0.632000													58	12					3.28156e-27	5.11556e-27	1	1	0
NOL10	79954	broad.mit.edu	37	2	10729738	10729738	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:10729738A>G	ENST00000345985.3	-	17	1522	c.1412T>C	c.(1411-1413)cTa>cCa	p.L471P	NOL10_ENST00000538384.1_Missense_Mutation_p.L495P|NOL10_ENST00000542668.1_Missense_Mutation_p.L471P|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000381685.5_Missense_Mutation_p.L521P	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	521						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TAAGAGTCTTAGTTTCTTCTT	0.323000													3	17					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278662	152278662	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152278662A>G	ENST00000368799.1	-	3	8735	c.8700T>C	c.(8698-8700)caT>caC	p.H2900H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2900	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTTCTGAATGTCCCTCAC	0.567000									Ichthyosis				44	811					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64361128	64361128	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:64361128G>A	ENST00000377574.1	+	4	1430	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	SLC22A12_ENST00000473690.1_Missense_Mutation_p.R7Q|SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R194Q|SLC22A12_ENST00000377567.2_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	228					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						ACGGCGGCACGGGCCCGACCC	0.647000													12	56					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277234	131277234	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:131277234T>A	ENST00000337057.3	-	2	573	c.392A>T	c.(391-393)gAa>gTa	p.E131V	EPB41L2_ENST00000445890.2_Missense_Mutation_p.E131V|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E131V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E131V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E131V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E131V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E131V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E131V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E131V|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E131V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E131V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	131					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGAGCCATTTCTTCAGCATC	0.433000													19	279					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327969	16327969	+	Silent	SNP	C	C	G	rs140370240	byFrequency	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:16327969C>G	ENST00000244769.4	-	8	1509	c.573G>C	c.(571-573)ccG>ccC	p.P191P	ATXN1_ENST00000436367.1_Silent_p.P191P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	191					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCTTGTGTCCCGGCGTCTGGC	0.662000													27	19					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627272	38627272	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:38627272C>A	ENST00000413689.1	-	16	2890	c.2697G>T	c.(2695-2697)tgG>tgT	p.W899C	SCN5A_ENST00000333535.4_Missense_Mutation_p.W899C|SCN5A_ENST00000455624.2_Missense_Mutation_p.W899C|SCN5A_ENST00000425664.1_Missense_Mutation_p.W899C|SCN5A_ENST00000423572.2_Missense_Mutation_p.W899C|SCN5A_ENST00000451551.2_Missense_Mutation_p.W899C|SCN5A_ENST00000450102.2_Missense_Mutation_p.W899C|SCN5A_ENST00000449557.2_Missense_Mutation_p.W899C|SCN5A_ENST00000443581.1_Missense_Mutation_p.W899C|SCN5A_ENST00000414099.2_Missense_Mutation_p.W899C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	899					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGTCTCGATCCACTCTCCAC	0.552000													19	76					0.00278032	0.00290298	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183096490	183096490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:183096490G>A	ENST00000258341.4	+	17	3331	c.3074G>A	c.(3073-3075)tGg>tAg	p.W1025*	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1025	Laminin EGF-like 11.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCGGTCTTGGCCTGGCTGC	0.473000													37	8					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509392	105509392	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:105509392C>A	ENST00000276654.5	-	5	1496	c.1388G>T	c.(1387-1389)tGt>tTt	p.C463F	LRP12_ENST00000424843.2_Missense_Mutation_p.C444F	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	463	LDL-receptor class A 5.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCAAACACACAACGATTGTT	0.418000													77	105					3.00167e-28	4.72166e-28	1	1	0
CNN1	1264	broad.mit.edu	37	19	11657746	11657746	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:11657746A>G	ENST00000592923.1	+	5	779	c.202A>G	c.(202-204)Aca>Gca	p.T68A	CNN1_ENST00000544952.1_Missense_Mutation_p.T98A|CNN1_ENST00000252456.2_Missense_Mutation_p.T118A|CNN1_ENST00000535659.2_Missense_Mutation_p.T68A			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	118	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CACCAACCATACACAGGTGCA	0.587000													35	94					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578437	7578437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:7578437G>A	ENST00000420246.2	-	5	625	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q165*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q165*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q165*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q165*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q165*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	165	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q165*(24)|p.0?(8)|p.K164fs*5(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.K164_Q165insXXX(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.Q165E(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTGTGACTGCTTGTAGATG	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			73	9					0	0	1	0	0
LCE2B	26239	broad.mit.edu	37	1	152659554	152659554	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152659554C>A	ENST00000368780.3	+	2	289	c.235C>A	c.(235-237)Cgt>Agt	p.R79S	LCE2B_ENST00000417924.2_Missense_Mutation_p.R79S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	79	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGGCCCCGTCTCTTCCA	0.677000													209	167					1.12606e-93	2.04286e-93	1	1	0
ANKRD46	157567	broad.mit.edu	37	8	101541808	101541808	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:101541808C>T	ENST00000520311.1	-	3	1057	c.254G>A	c.(253-255)tGt>tAt	p.C85Y	ANKRD46_ENST00000519597.1_Missense_Mutation_p.C85Y|ANKRD46_ENST00000519316.1_Missense_Mutation_p.C85Y|ANKRD46_ENST00000335659.3_Missense_Mutation_p.C85Y|ANKRD46_ENST00000520552.1_Missense_Mutation_p.C85Y	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	85						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CACATGGCCACAGAGGTGAAG	0.423000													29	74					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639653	94639653	+	Silent	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:94639653G>C	ENST00000260526.6	-	23	3740	c.3558C>G	c.(3556-3558)ccC>ccG	p.P1186P		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1186					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTGCTGCTGAGGGTGAAGCTG	0.532000													24	27					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073012	17073012	+	Silent	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:17073012G>C	ENST00000359963.3	-	1	688	c.429C>G	c.(427-429)gtC>gtG	p.V143V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	143					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTGTGGCCAGGACCTCTGCAG	0.642000													38	70					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53518930	53518930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:53518930G>A	ENST00000370905.3	-	2	1281	c.1141C>T	c.(1141-1143)Caa>Taa	p.Q381*	KLHL31_ENST00000407079.1_Nonsense_Mutation_p.Q381*	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGCTTGGCTTGATTTCTTGCA	0.403000													112	97					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324407	152324407	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152324407C>G	ENST00000388718.5	-	3	5927	c.5855G>C	c.(5854-5856)gGa>gCa	p.G1952A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1952							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCAGATCCCCTTCTTCC	0.527000													6	574					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719287	42719287	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:42719287T>A	ENST00000230882.4	+	10	1868	c.1678T>A	c.(1678-1680)Tta>Ata	p.L560I	GHR_ENST00000357703.3_Missense_Mutation_p.L538I|GHR_ENST00000537449.1_Missense_Mutation_p.L373I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	560					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACAGCCAAGCTTAAACCAAGA	0.493000													18	27					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109689957	109689957	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:109689957A>G	ENST00000338432.7	+	42	6016	c.5897A>G	c.(5896-5898)aAc>aGc	p.N1966S	ACACB_ENST00000377854.5_Missense_Mutation_p.N1896S|ACACB_ENST00000377848.3_Missense_Mutation_p.N1966S|ACACB_ENST00000543201.1_Missense_Mutation_p.N632S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1966	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGTGCTCTCAACAAGGTGACC	0.537000													7	10					0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18210164	18210164	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:18210164C>G	ENST00000317582.5	+	7	1669	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000337612.5_Missense_Mutation_p.S279C|BCL2L13_ENST00000538149.1_Missense_Mutation_p.S317C|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.S279C|BCL2L13_ENST00000418951.2_3'UTR	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	441					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GAGGGCAAGTCTAGACTGTCC	0.597000													78	86					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20825748	20825748	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:20825748G>A	ENST00000328879.4	-	3	438	c.282C>T	c.(280-282)caC>caT	p.H94H	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	94	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGACACACCGTGGATCAGGA	0.483000													89	130					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299392	158299392	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158299392G>T	ENST00000368168.3	-	4	761	c.654C>A	c.(652-654)ggC>ggA	p.G218G		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	218	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCTGCAGACGGCCAGGTCCAG	0.567000													114	134					2.66069e-56	4.71201e-56	1	1	0
OR51E1	143503	broad.mit.edu	37	11	4673876	4673876	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:4673876T>A	ENST00000396952.5	+	2	770	c.120T>A	c.(118-120)atT>atA	p.I40I	OR51E1_ENST00000530215.1_Silent_p.I40I	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTACCTTATTGCTGTGCTAG	0.463000													80	36					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600580	29600580	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:29600580A>T	ENST00000431530.3	+	1	1833	c.1775A>T	c.(1774-1776)aAc>aTc	p.N592I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	582						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGCTTGTTGAACACGTCCCCC	0.547000													28	61					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021991	5021991	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:5021991C>A	ENST00000382545.3	+	2	2554	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	483					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACTGCTAACCAAAACTGCGT	0.393000													121	26					3.39902e-54	5.9789e-54	1	1	0
MYH15	22989	broad.mit.edu	37	3	108220590	108220590	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:108220590A>T	ENST00000273353.3	-	4	424	c.368T>A	c.(367-369)cTg>cAg	p.L123Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	123	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCGCCGCTTCAGGGTATGCAG	0.478000													23	64					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58124067	58124067	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:58124067C>T	ENST00000357272.4	+	29	5085	c.4920C>T	c.(4918-4920)gcC>gcT	p.A1640A	FLNB_ENST00000419752.2_Silent_p.A1471A|FLNB_ENST00000493452.1_Silent_p.A1471A|FLNB_ENST00000490882.1_Silent_p.A1671A|FLNB_ENST00000358537.3_Silent_p.A1640A|FLNB_ENST00000348383.5_Silent_p.A1640A|FLNB_ENST00000429972.2_Silent_p.A1640A|FLNB_ENST00000295956.4_Silent_p.A1640A			O75369	FLNB_HUMAN	filamin B, beta	1640					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTTGATGCCAAGACTGCCG	0.522000													49	12					0	0	1	0	0
AIF1	199	broad.mit.edu	37	6	31584645	31584645	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:31584645C>A	ENST00000376059.3	+	6	558	c.412C>A	c.(412-414)Cca>Aca	p.P138T	AIF1_ENST00000376049.4_Missense_Mutation_p.P84T	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	138				KEKPTGPPAKKAISELP -> RKTNTPPSQESPI (in Ref. 2; AAA92457).	actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						AACAGGCCCCCCAGCCAAGAA	0.483000													31	42					1.75199e-13	2.26727e-13	1	1	0
CNGA3	1261	broad.mit.edu	37	2	99012955	99012955	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:99012955T>G	ENST00000393504.1	+	8	1739	c.1322T>G	c.(1321-1323)tTt>tGt	p.F441C	CNGA3_ENST00000272602.2_Missense_Mutation_p.F441C|CNGA3_ENST00000436404.2_Missense_Mutation_p.F423C|CNGA3_ENST00000409937.1_Missense_Mutation_p.F445C	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	441					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ATCCGGTGGTTTGACTACCTG	0.557000													37	41					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2810718	2810718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:2810718G>T	ENST00000307741.6	+	11	1926	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*	THOP1_ENST00000586677.1_Nonsense_Mutation_p.E454*|THOP1_ENST00000395212.4_Nonsense_Mutation_p.E86*	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	575					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGCCGAGGAGTATGCGCG	0.677000													6	5					5.9392e-07	6.75676e-07	1	1	0
OR6N2	81442	broad.mit.edu	37	1	158747165	158747165	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158747165A>C	ENST00000339258.1	-	1	260	c.261T>G	c.(259-261)agT>agG	p.S87R		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTTTCTTCTCACTGAGAATAT	0.448000													181	180					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721396	56721396	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:56721396C>T	ENST00000425394.2	-	6	1047	c.671G>A	c.(670-672)cGt>cAt	p.R224H	PAN2_ENST00000440411.3_Missense_Mutation_p.R224H|PAN2_ENST00000257931.5_Missense_Mutation_p.R224H|PAN2_ENST00000548043.1_Missense_Mutation_p.R224H	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	224					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTTAAAAGTACGGAGGTCTCT	0.468000													21	36					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4889278	4889278	+	Splice_Site	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:4889278T>C	ENST00000361571.5	-	3	512	c.100_splice	c.e3-1	p.E34_splice	CAMTA2_ENST00000358183.4_Splice_Site_p.E11_splice|CAMTA2_ENST00000572543.1_Splice_Site_p.E11_splice|CAMTA2_ENST00000348066.3_Splice_Site_p.E11_splice|CAMTA2_ENST00000414043.3_Splice_Site_p.E34_splice|CAMTA2_ENST00000381311.5_Splice_Site_p.E13_splice	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	11					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTGGCTGTTTTCTAAAGGGAA	0.532000													36	64					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857562	124857562	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:124857562A>G	ENST00000529051.1	+	8	1699	c.1440A>G	c.(1438-1440)ttA>ttG	p.L480L	CCDC15_ENST00000344762.5_Silent_p.L480L			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	480						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTTTTTATCTAGAGACC	0.408000													5	262					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85991747	85991747	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:85991747G>C	ENST00000372105.3	-	4	1829	c.1808C>G	c.(1807-1809)tCc>tGc	p.S603C		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	603						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTCCACACTGGAACGAGCTGA	0.577000													3	17					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38445787	38445787	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:38445787G>A	ENST00000354891.3	+	18	2817	c.2471G>A	c.(2470-2472)gGg>gAg	p.G824E	EGFLAM_ENST00000322350.5_Intron|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Intron|EGFLAM_ENST00000506135.1_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	824						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCAGAGTGTGGGAACTACTGC	0.552000													170	94					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													4	3					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547328	165547328	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:165547328C>A	ENST00000264381.3	-	2	1660	c.1494G>T	c.(1492-1494)cgG>cgT	p.R498R	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	498					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATTTGCCCACCGTTTCACTA	0.393000													13	122					0.0135373	0.0138657	1	1	0
VIT	5212	broad.mit.edu	37	2	37032714	37032714	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:37032714G>T	ENST00000379242.3	+	14	1598	c.1296G>T	c.(1294-1296)gcG>gcT	p.A432A	VIT_ENST00000404084.1_Silent_p.A369A|VIT_ENST00000389975.3_Silent_p.A417A|VIT_ENST00000497382.1_Silent_p.A86A|VIT_ENST00000379241.3_Silent_p.A395A|VIT_ENST00000401530.1_Silent_p.A396A	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	417	VWFA 1.					proteinaceous extracellular matrix		p.A432A(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAAGACTTGCGAGAGAGTCAG	0.498000													45	86					7.05121e-23	1.05498e-22	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11023091	11023091	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:11023091C>A	ENST00000304623.8	-	17	2978	c.2788_splice	c.e17-1	p.G930_splice	CTNND2_ENST00000511377.1_Splice_Site_p.G839_splice|CTNND2_ENST00000503622.1_Splice_Site_p.G593_splice|CTNND2_ENST00000458100.2_Splice_Site_p.G497_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Splice_Site_p.G872_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	930					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCGTATTTGCCTGGAAAAGA	0.512000													41	26					6.33695e-27	9.82951e-27	1	1	0
GRM2	2912	broad.mit.edu	37	3	51749447	51749447	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:51749447G>T	ENST00000395052.3	+	4	1892	c.1658G>T	c.(1657-1659)tGc>tTc	p.C553F	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	553					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTGACTGGCTGCTTCGAACTG	0.622000													24	34					9.57634e-11	1.17689e-10	1	1	0
HHIP	64399	broad.mit.edu	37	4	145568069	145568069	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:145568069G>T	ENST00000296575.3	+	1	897	c.242G>T	c.(241-243)cGg>cTg	p.R81L	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R81L	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	81						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGCTGCCTGCGGAGTGACAGC	0.617000													18	32					6.49762e-13	8.28513e-13	1	1	0
MAU2	23383	broad.mit.edu	37	19	19431731	19431731	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:19431731G>T	ENST00000392313.5	+	1	109	c.63G>T	c.(61-63)gcG>gcT	p.A21A	MAU2_ENST00000262815.8_Silent_p.A21A	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	21	Ala-rich.|Sufficient for interaction with NIPBL.				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						aggccgaggcggcCGACTCGT	0.711000													4	3					0.00909568	0.00933473	1	1	0
PAPOLG	64895	broad.mit.edu	37	2	61009052	61009052	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:61009052C>T	ENST00000238714.3	+	11	1188	c.939C>T	c.(937-939)ccC>ccT	p.P313P	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	313					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATCTCATGCCCATAATCACCC	0.383000													38	126					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57741253	57741253	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:57741253A>G	ENST00000269122.3	+	9	1693	c.1419A>G	c.(1417-1419)acA>acG	p.T473T	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.T473T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	473	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGGACCCTACATTGGCACTTA	0.388000			T	"""ALK, TFE3"""	"""ALCL, renal """								25	82					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111471018	111471018	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:111471018T>C	ENST00000265162.5	+	17	2819	c.2477T>C	c.(2476-2478)gTg>gCg	p.V826A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	826					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTAGCATCAGTGAAGAACGTT	0.333000													28	17					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33510499	33510499	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:33510499G>T	ENST00000268876.5	+	19	2530	c.2433G>T	c.(2431-2433)ctG>ctT	p.L811L	UNC45B_ENST00000591048.1_Silent_p.L730L|UNC45B_ENST00000433649.1_Silent_p.L809L|UNC45B_ENST00000378449.1_Silent_p.L730L|UNC45B_ENST00000394570.2_Silent_p.L809L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	811					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGTGGTGCTGCTCTGCGGGG	0.562000													8	54					5.18039e-06	5.75517e-06	1	1	0
OR5D14	219436	broad.mit.edu	37	11	55563358	55563358	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:55563358T>A	ENST00000335605.1	+	1	327	c.327T>A	c.(325-327)gcT>gcA	p.A109A		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCTGCACTGCTGTGGTGACAG	0.488000													26	7					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153035390	153035390	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:153035390A>G	ENST00000285900.5	+	5	1000	c.657A>G	c.(655-657)ctA>ctG	p.L219L	GRIA1_ENST00000340592.5_Silent_p.L219L|GRIA1_ENST00000518783.1_Silent_p.L229L|GRIA1_ENST00000518142.1_Silent_p.L139L|GRIA1_ENST00000521843.2_Silent_p.L150L|GRIA1_ENST00000448073.4_Silent_p.L229L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	219					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTATAAAGCTAGAGAAGAATG	0.438000													11	61					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188233	32188233	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:32188233A>T	ENST00000375023.3	-	6	1246	c.1108T>A	c.(1108-1110)Tgc>Agc	p.C370S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	370	EGF-like 9; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGTCAATGCAGGTGGATCCC	0.602000													95	136					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703699	55703699	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:55703699G>T	ENST00000301532.3	-	1	177	c.178C>A	c.(178-180)Ccc>Acc	p.P60T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P60A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAATACATGGGGGTTTGAAGG	0.393000													45	6					1.48734e-19	2.11586e-19	1	1	0
EYS	346007	broad.mit.edu	37	6	66204559	66204559	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:66204559T>A	ENST00000503581.1	-	4	1282	c.745A>T	c.(745-747)Aca>Tca	p.T249S	EYS_ENST00000370618.3_Missense_Mutation_p.T249S|EYS_ENST00000370621.3_Missense_Mutation_p.T249S|EYS_ENST00000342421.5_Missense_Mutation_p.T249S|EYS_ENST00000393380.2_Missense_Mutation_p.T249S|EYS_ENST00000370616.2_Missense_Mutation_p.T249S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	249	EGF-like 2.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATCTTACCTGTAAATGGTGGG	0.294000													4	0					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124271510	124271510	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:124271510G>T	ENST00000368984.3	+	8	1331	c.1203G>T	c.(1201-1203)cgG>cgT	p.R401R		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	401	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGAAGGACCGGCACCGGGACT	0.502000													11	58					1.61879e-10	1.98007e-10	1	1	0
SH2B2	10603	broad.mit.edu	37	7	101944453	101944453	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:101944453G>T	ENST00000536178.1	+	2	793	c.748G>T	c.(748-750)Gac>Tac	p.D250Y	SH2B2_ENST00000306803.8_Missense_Mutation_p.D207Y			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	207	PH.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GGTGGCCGACGACGCGGCCGC	0.706000													6	9					5.18039e-06	5.75517e-06	1	1	0
HMGN5	79366	broad.mit.edu	37	X	80375304	80375304	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:80375304C>A	ENST00000358130.2	-	3	356	c.28G>T	c.(28-30)Ggt>Tgt	p.G10C	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	10					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						CTCATATCACCTTGACCTGCA	0.368000													15	28					0.000422831	0.000450213	1	1	0
GGCX	2677	broad.mit.edu	37	2	85780471	85780471	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:85780471T>A	ENST00000233838.3	-	8	1119	c.1039A>T	c.(1039-1041)Agg>Tgg	p.R347W	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R290W	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	347					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCCCGGCTCCTCTTATACACA	0.602000													77	106					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936704	15936704	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:15936704G>T	ENST00000504595.1	+	4	1366	c.885G>T	c.(883-885)gcG>gcT	p.A295A	FBXL7_ENST00000510662.1_Silent_p.A248A|FBXL7_ENST00000329673.7_Silent_p.A283A	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	295					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCATCGCGGCGCACTGCACGC	0.612000													12	58					0.00010058	0.000108349	1	1	0
PALD1	27143	broad.mit.edu	37	10	72326387	72326387	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:72326387C>T	ENST00000263563.6	+	20	2737	c.2469C>T	c.(2467-2469)ccC>ccT	p.P823P		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGGGCTTCCCCGAGCTGGAGA	0.657000													8	13					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123254837	123254837	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:123254837A>T	ENST00000264501.4	+	68	11892	c.11519A>T	c.(11518-11520)aAg>aTg	p.K3840M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K3840M			Q2LD37	K1109_HUMAN	KIAA1109	3840	Poly-Lys.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCAAAAAAGAAGAAGTTTCAA	0.348000													13	17					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175299237	175299237	+	Missense_Mutation	SNP	G	G	T	rs144730675		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:175299237G>T	ENST00000367674.1	-	21	4474	c.3766C>A	c.(3766-3768)Cgc>Agc	p.R1256S	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.R1256S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1256	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTTCCTATGCGGAGTTTGTAC	0.597000													33	52					6.00712e-18	8.28898e-18	1	1	0
TRBV19	28568	broad.mit.edu	37	7	142326795	142326795	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142326795C>A	ENST00000390393.3	+	0	301																											AGTACCTGTTCAGAAAGGAAG	0.527000													81	42					1.39921e-30	2.25084e-30	1	1	0
SELENBP1	8991	broad.mit.edu	37	1	151338900	151338900	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:151338900C>A	ENST00000435071.1	-	7	964	c.502G>T	c.(502-504)Gac>Tac	p.D168Y	SELENBP1_ENST00000447402.3_Missense_Mutation_p.D170Y|SELENBP1_ENST00000368868.5_Missense_Mutation_p.D232Y|SELENBP1_ENST00000426705.2_Missense_Mutation_p.D274Y			Q13228	SBP1_HUMAN	selenium binding protein 1	232					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGCTGCCAGTCCCATACATAT	0.572000													88	198					2.41118e-28	3.80047e-28	1	1	0
SLAMF8	56833	broad.mit.edu	37	1	159803081	159803081	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:159803081C>G	ENST00000289707.5	+	4	852	c.703C>G	c.(703-705)Ctg>Gtg	p.L235V	SLAMF8_ENST00000368104.4_Missense_Mutation_p.L126V|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	235						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CAAAGATGTGCTGCTGGTGGT	0.592000													159	379					0	0	1	0	0
BLOC1S5	63915	broad.mit.edu	37	6	8041435	8041435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:8041435C>A	ENST00000397457.2	-	3	299	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	BLOC1S5_ENST00000543936.1_Nonsense_Mutation_p.E24*|EEF1E1-MUTED_ENST00000397456.2_3'UTR	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1			biogenesis of lysosomal organelles complex-1, subunit 5, muted																		AGAGTATGTTCATTTGTTTCA	0.368000													21	67					8.10497e-08	9.41262e-08	1	1	0
PRDX3	10935	broad.mit.edu	37	10	120934031	120934031	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:120934031C>A	ENST00000298510.2	-	3	285	c.243G>T	c.(241-243)gaG>gaT	p.E81D	PRDX3_ENST00000356951.3_Missense_Mutation_p.E63D	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	81	Thioredoxin.				cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		GGTCTTTGAACTCTCCATTGA	0.418000													15	47					7.93312e-07	8.97937e-07	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106976693	106976693	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:106976693G>T	ENST00000369701.3	+	19	2774		c.e19-1		SORCS3_ENST00000369699.4_Splice_Site	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3							integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATCTTGCAGGGTGATCTAC	0.507000													13	25					9.31168e-06	1.03155e-05	1	1	0
EPCAM	4072	broad.mit.edu	37	2	47600710	47600710	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:47600710G>T	ENST00000263735.4	+	2	542		c.e2+1		EPCAM_ENST00000405271.1_Splice_Site	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule						positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(2)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TGCTCAAAGCGTGAGTAAAAT	0.348000													20	21					1.00905e-13	1.31126e-13	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62300854	62300854	+	Splice_Site	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:62300854C>G	ENST00000261517.5	-	14	1191	c.1118_splice	c.e14+1	p.W373_splice	VPS13C_ENST00000395898.3_Splice_Site_p.W330_splice|VPS13C_ENST00000249837.3_Splice_Site_p.W330_splice|VPS13C_ENST00000395896.4_Splice_Site_p.W373_splice	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	373					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTAACTTACCATCGTCGACC	0.348000													10	2					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141108376	141108376	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:141108376C>A	ENST00000389484.3	-	77	12853	c.11882G>T	c.(11881-11883)aGt>aTt	p.S3961I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3961					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCAAGCCACTGTTTGCTTG	0.308000										TSP Lung(27;0.18)			23	33					9.57634e-11	1.17689e-10	1	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253394	32253394	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:32253394C>A	ENST00000332378.4	-	1	480	c.450G>T	c.(448-450)acG>acT	p.T150T		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	150	4 X 10 AA approximate repeats.					keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACTGCTGATACGTCCTGGAGA	0.582000													71	110					8.20758e-20	1.17401e-19	1	1	0
RASGRF2	5924	broad.mit.edu	37	5	80338746	80338746	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:80338746G>T	ENST00000265080.4	+	2	406	c.339G>T	c.(337-339)ctG>ctT	p.L113L		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	113	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CACTGGAGCTGCGCTGTGAGG	0.443000													5	14					3.59834e-05	3.9168e-05	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20448676	20448676	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:20448676C>A	ENST00000331849.4	+	12	1670	c.1523C>A	c.(1522-1524)cCc>cAc	p.P508H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	508					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGCCCAGACCCCATCAGGGGA	0.567000													26	7					1.88708e-17	2.59018e-17	1	1	0
DCAF8	50717	broad.mit.edu	37	1	160210060	160210060	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:160210060C>A	ENST00000368073.3	-	4	584	c.150G>T	c.(148-150)ttG>ttT	p.L50F	DCAF8_ENST00000556710.1_Missense_Mutation_p.L204F|DCAF8_ENST00000368074.1_Missense_Mutation_p.L50F|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000326837.2_Missense_Mutation_p.L50F			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	50						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CATCCCCAGTCAAGCTCAAAC	0.557000													30	30					1.08312e-15	1.44849e-15	1	1	0
TANC1	85461	broad.mit.edu	37	2	160035669	160035669	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:160035669G>A	ENST00000263635.6	+	14	2742	c.2505G>A	c.(2503-2505)gaG>gaA	p.E835E	TANC1_ENST00000454300.1_Silent_p.E729E	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	835						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCTGTGTGAGCCCAGGTACG	0.537000													29	85					0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160210062	160210062	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:160210062A>G	ENST00000368073.3	-	4	582	c.148T>C	c.(148-150)Ttg>Ctg	p.L50L	DCAF8_ENST00000556710.1_Silent_p.L204L|DCAF8_ENST00000368074.1_Silent_p.L50L|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000326837.2_Silent_p.L50L			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	50						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCCCAGTCAAGCTCAAACTC	0.557000													30	30					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156617790	156617790	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:156617790C>A	ENST00000329117.4	+	5	993	c.657C>A	c.(655-657)acC>acA	p.T219T	BCAN_ENST00000361588.5_Silent_p.T219T|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	219	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCATCCAGACCCCACGAGAGG	0.537000													106	80					5.89325e-56	1.0425e-55	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	2027607	2027607	+	Silent	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:2027607G>C	ENST00000382722.5	-	1	395	c.33C>G	c.(31-33)ctC>ctG	p.L11L	RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000586184.1_Silent_p.L11L|CACNA2D4_ENST00000585732.1_Silent_p.L11L|CACNA2D4_ENST00000587995.1_Silent_p.L11L	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	11						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGGGTTGGGGAGGGGAAGGA	0.662000													7	2					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960134	215960134	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:215960134C>T	ENST00000366943.2	-	52	10651	c.10265G>A	c.(10264-10266)aGc>aAc	p.S3422N	USH2A_ENST00000307340.3_Missense_Mutation_p.S3422N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3422	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAAATGTGGCTGGTAAAGTT	0.478000										HNSCC(13;0.011)			52	26					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640185	7640185	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:7640185A>T	ENST00000359156.4	-	8	2022	c.1820T>A	c.(1819-1821)cTc>cAc	p.L607H	CD163_ENST00000396620.3_Missense_Mutation_p.L640H|CD163_ENST00000541972.1_Missense_Mutation_p.L595H|CD163_ENST00000432237.2_Missense_Mutation_p.L607H	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	607	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGAGTTACAGAGGGATCCCCA	0.522000													80	25					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462164	37462164	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:37462164G>T	ENST00000381792.2	-	19	2571	c.2431C>A	c.(2431-2433)Cgc>Agc	p.R811S	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R811S|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R789S|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R798S			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	798	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCTGTGATGCGGGTGTAGACG	0.652000													16	69					1.02788e-11	1.28547e-11	1	1	0
DDX39A	10212	broad.mit.edu	37	19	14522358	14522358	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:14522358T>C	ENST00000242776.4	-	4	490	c.389A>G	c.(388-390)aAg>aGg	p.K130R	DDX39A_ENST00000454233.2_Missense_Mutation_p.K130R|DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	130	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CTCATATTCCTTGCTGATCTG	0.557000													25	7					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665853	157665853	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:157665853G>T	ENST00000368184.3	-	7	1400	c.1109C>A	c.(1108-1110)aCg>aAg	p.T370K	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.T370K	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	370						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCGAATCCACGTGCTGAGGAT	0.527000													88	70					1.14904e-54	2.02344e-54	1	1	0
MFN1	55669	broad.mit.edu	37	3	179080257	179080257	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:179080257G>T	ENST00000471841.1	+	5	649	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L	MFN1_ENST00000280653.7_Missense_Mutation_p.V175L|MFN1_ENST00000263969.5_Missense_Mutation_p.V175L	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	175					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGATGACCTGGTGTTAGTAGA	0.378000													51	54					3.4597e-24	5.24665e-24	1	1	0
GRM4	2914	broad.mit.edu	37	6	33995949	33995949	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:33995949G>C	ENST00000374181.3	-	9	2806	c.2637C>G	c.(2635-2637)ttC>ttG	p.F879L	GRM4_ENST00000544773.1_Missense_Mutation_p.F710L|GRM4_ENST00000535756.1_Missense_Mutation_p.F746L|GRM4_ENST00000374177.3_Missense_Mutation_p.F763L|GRM4_ENST00000545715.1_Missense_Mutation_p.F571L|GRM4_ENST00000538487.1_Missense_Mutation_p.F879L|GRM4_ENST00000455714.2_Missense_Mutation_p.F739L	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	879					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGTTGGGCCGGAAGTTGCCCT	0.657000													16	54					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56349077	56349077	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:56349077C>T	ENST00000340482.3	-	10	2241	c.2065G>A	c.(2065-2067)Gtg>Atg	p.V689M	MPO_ENST00000225275.3_Missense_Mutation_p.V657M			P05164	PERM_HUMAN	myeloperoxidase	657					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGTGGGCCCACGCGGCCTTTG	0.632000													8	40					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148120	34148120	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:34148120G>C	ENST00000346193.3	-	1	2327	c.2276C>G	c.(2275-2277)gCc>gGc	p.A759G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	759										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCCCTCCTGGCAAACAGCCT	0.413000													94	19					0	0	1	0	0
MED30	90390	broad.mit.edu	37	8	118533169	118533169	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:118533169G>T	ENST00000297347.3	+	1	218	c.54G>T	c.(52-54)ggG>ggT	p.G18G	MED30_ENST00000522839.1_Silent_p.G18G	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	18					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CCTTCGCCGGGCCCCAGGCTC	0.701000													18	38					2.48551e-13	3.20856e-13	1	1	0
AK5	26289	broad.mit.edu	37	1	77752709	77752709	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:77752709G>A	ENST00000344720.5	+	2	1092	c.66G>A	c.(64-66)ctG>ctA	p.L22L	AK5_ENST00000354567.2_Silent_p.L48L|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	48					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TAAAGGAACTGGGTGGCTGTG	0.398000													51	18					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183006993	183006993	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:183006993G>T	ENST00000328913.3	-	14	1988	c.1691C>A	c.(1690-1692)cCt>cAt	p.P564H	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P564H|MCF2L2_ENST00000414362.2_Missense_Mutation_p.P564H|MCF2L2_ENST00000447025.2_Missense_Mutation_p.P564H|B3GNT5_ENST00000462559.1_Intron	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	564					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGTTCTCAGAGGACGAGCTAG	0.408000													7	26					3.09899e-07	3.55144e-07	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26422706	26422706	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:26422706G>T	ENST00000335473.7	+	43	7016	c.6766G>T	c.(6766-6768)Ggg>Tgg	p.G2256W	MYO18B_ENST00000407587.2_Missense_Mutation_p.G2257W|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2256W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2256						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTTCGTGGAAGGGCTCCGGAG	0.627000													21	24					1.28384e-07	1.48106e-07	1	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13915656	13915656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:13915656G>T	ENST00000254323.2	+	3	595	c.406G>T	c.(406-408)Gag>Tag	p.E136*		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	136							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGGAGAGCCCGAGCGCCTCTA	0.592000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	36					3.6726e-16	4.94535e-16	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101595212	101595212	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:101595212G>T	ENST00000284395.5	+	28	4507	c.4107G>T	c.(4105-4107)tcG>tcT	p.S1369S	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.S1372S			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1372	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGATCGCCTCGGGCCTGGCCT	0.443000													49	57					1.51926e-22	2.26439e-22	1	1	0
TSC2	7249	broad.mit.edu	37	16	2106212	2106212	+	Silent	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:2106212G>C	ENST00000219476.3	+	7	1245	c.615G>C	c.(613-615)ctG>ctC	p.L205L	TSC2_ENST00000350773.4_Silent_p.L205L|TSC2_ENST00000401874.2_Silent_p.L205L|TSC2_ENST00000353929.4_Silent_p.L205L|TSC2_ENST00000568454.1_Silent_p.L216L|TSC2_ENST00000382538.6_Silent_p.L156L|TSC2_ENST00000439673.2_Silent_p.L168L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	205	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCTGTCTGCTGTGCGTCCGGA	0.652000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				48	30					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692335	135692335	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:135692335G>T	ENST00000513104.1	-	2	1023	c.741C>A	c.(739-741)aaC>aaA	p.N247K	TRPC7_ENST00000426057.2_Missense_Mutation_p.N247K|TRPC7_ENST00000355180.3_Missense_Mutation_p.N247K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	247					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCTAACTCGTTGCTGAGCT	0.577000													7	16					3.09899e-07	3.55144e-07	1	1	0
WDR89	112840	broad.mit.edu	37	14	64066078	64066078	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:64066078C>A	ENST00000394942.2	-	2	671	c.583G>T	c.(583-585)Gta>Tta	p.V195L	WDR89_ENST00000267522.3_Missense_Mutation_p.V195L	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	195										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		AATACATTTACCAGGCCATCA	0.408000													59	18					1.93748e-29	3.07868e-29	1	1	0
AGRN	375790	broad.mit.edu	37	1	980655	980655	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:980655C>T	ENST00000379370.2	+	13	2419	c.2369C>T	c.(2368-2370)cCc>cTc	p.P790L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	790					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCTGGCTGCCCCAGTGAGTAC	0.701000													24	31					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113256651	113256651	+	Silent	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:113256651G>C	ENST00000297405.5	-	65	10618	c.10374C>G	c.(10372-10374)acC>acG	p.T3458T	CSMD3_ENST00000343508.3_Silent_p.T3418T|CSMD3_ENST00000455883.2_Silent_p.T3289T|CSMD3_ENST00000352409.3_Silent_p.T3388T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3458	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCAGTCCAGGTGTTATCGG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	91					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978869	148978869	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:148978869G>C	ENST00000434415.1	+	6	1239	c.1076G>C	c.(1075-1077)cGc>cCc	p.R359P	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	359					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CAGAGCTTCCGCCTGAAGATC	0.731000													6	8					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44980779	44980779	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:44980779C>A	ENST00000372227.1	-	8	1288	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	SLC35C2_ENST00000317734.8_Missense_Mutation_p.G229W|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000372230.5_Missense_Mutation_p.G250W|SLC35C2_ENST00000372229.1_Missense_Mutation_p.G117W|SLC35C2_ENST00000543605.1_Missense_Mutation_p.G279W|SLC35C2_ENST00000243896.2_Missense_Mutation_p.G250W			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	250					transport	integral to membrane		p.G250R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GCGAGAATCCCGCCAAGGAAG	0.537000													57	19					5.82218e-30	9.29882e-30	1	1	0
GTSE1	51512	broad.mit.edu	37	22	46709786	46709786	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:46709786G>T	ENST00000454366.1	+	6	1139		c.e6-1			NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TTTTGCCCCAGTTGGGGCTGA	0.512000											OREG0026653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	95					1.30015e-28	2.05135e-28	1	1	0
AK7	122481	broad.mit.edu	37	14	96922717	96922717	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:96922717G>C	ENST00000267584.4	+	11	1176	c.1132G>C	c.(1132-1134)Gtg>Ctg	p.V378L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	378	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TCCCCCTGCTGTGGGAAAATC	0.433000													19	32					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158654919	158654919	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158654919A>G	ENST00000368148.3	-	2	423	c.243T>C	c.(241-243)taT>taC	p.Y81Y	SPTA1_ENST00000368147.3_Silent_p.Y81Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	81					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGGGTCTTCATAGCTCTTAT	0.398000													35	98					0	0	1	0	0
POU3F1	5453	broad.mit.edu	37	1	38511294	38511294	+	Missense_Mutation	SNP	G	G	T	rs147015857		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:38511294G>T	ENST00000373012.2	-	1	1156	c.1122C>A	c.(1120-1122)gaC>gaA	p.D374E		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	374					positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCTGCAGGCTGTCTGCCAAGC	0.677000													6	13					0.0381472	0.0388689	1	1	0
EDIL3	10085	broad.mit.edu	37	5	83362368	83362368	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:83362368T>C	ENST00000296591.5	-	7	1127	c.709A>G	c.(709-711)Att>Gtt	p.I237V	EDIL3_ENST00000380138.3_Missense_Mutation_p.I227V|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	237	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GGGCTTCCAATCCTCTTGGCT	0.383000													11	22					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011563	141011563	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:141011563A>T	ENST00000508812.1	+	5	2839	c.932A>T	c.(931-933)cAc>cTc	p.H311L	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Missense_Mutation_p.H320L|ACPL2_ENST00000504264.1_Missense_Mutation_p.H303L|ACPL2_ENST00000393010.2_Missense_Mutation_p.H320L|ACPL2_ENST00000502783.1_Missense_Mutation_p.H282L|ACPL2_ENST00000393007.1_Missense_Mutation_p.H304L			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	320						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GACATGGAGCACTTCAAGGTA	0.502000													23	57					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230278	140230278	+	Missense_Mutation	SNP	C	C	T	rs138234390	byFrequency	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140230278C>T	ENST00000378122.3	+	1	2922	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A733V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGTGCGCGCCTGGCAAG	0.642000													41	64					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378655	142378655	+	RNA	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142378655C>T	ENST00000390398.3	+	0	84																											TTTCTGGGGGCAGGTAAGTCA	0.493000													4	15					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938440	2938440	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:2938440T>C	ENST00000378404.2	+	1	395	c.190T>C	c.(190-192)Tac>Cac	p.Y64H		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	64						cytoplasm|cytoskeleton		p.Y64N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGAGGCCCTGTACAAGCAGGA	0.602000													18	32					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49843573	49843573	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:49843573C>A	ENST00000333486.3	-	22	2899	c.2741G>T	c.(2740-2742)tGg>tTg	p.W914L	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	914					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGACGGTCCCAAGAGGTCCA	0.597000													7	1					0.0477658	0.0485743	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23803356	23803356	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:23803356G>C	ENST00000264867.2	-	12	2409	c.2290C>G	c.(2290-2292)Cta>Gta	p.L764V	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	764					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCCATACCTAGGTCTGCATAG	0.413000													19	30					0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236631536	236631536	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:236631536A>G	ENST00000359362.5	+	5	409	c.195A>G	c.(193-195)gaA>gaG	p.E65E	EDARADD_ENST00000334232.4_Silent_p.E75E	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	75					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTAGGGAGAAGAAAATGGCT	0.353000													71	17					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141665618	141665618	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:141665618A>C	ENST00000389484.3	-	22	4319	c.3348T>G	c.(3346-3348)tgT>tgG	p.C1116W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1116	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCTCCATCACACACCCATG	0.403000										TSP Lung(27;0.18)			14	61					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44911046	44911046	+	Splice_Site	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:44911046A>C	ENST00000377967.4	+	9	788	c.748_splice	c.e9+1	p.L249_splice	KDM6A_ENST00000536777.1_Splice_Site_p.L249_splice|KDM6A_ENST00000382899.4_Splice_Site_p.L249_splice|KDM6A_ENST00000543216.1_Splice_Site_p.L249_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	249					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TACAACAGTTAGGTATGTAAT	0.323000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								9	9					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108432721	108432721	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:108432721G>T	ENST00000263054.6	-	15	1970	c.1963C>A	c.(1963-1965)Cgc>Agc	p.R655S	SORCS1_ENST00000344440.6_Missense_Mutation_p.R655S|SORCS1_ENST00000369698.1_Missense_Mutation_p.R190S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	655						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CATTCAGAGCGGTGGCTGAAG	0.438000													8	19					0.000157383	0.000169073	1	1	0
NFYC	4802	broad.mit.edu	37	1	41232363	41232363	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:41232363C>T	ENST00000372652.1	+	8	1084	c.816C>T	c.(814-816)acC>acT	p.T272T	NFYC_ENST00000372654.1_Silent_p.T272T|NFYC_ENST00000372651.1_Silent_p.T272T|NFYC_ENST00000308733.5_Silent_p.T272T|NFYC_ENST00000425457.2_Silent_p.T272T|NFYC_ENST00000372653.1_Silent_p.T238T|NFYC_ENST00000456393.2_Silent_p.T272T|NFYC_ENST00000447388.3_Silent_p.T272T|NFYC_ENST00000440226.3_Silent_p.T272T|NFYC_ENST00000483091.1_3'UTR|NFYC_ENST00000427410.2_Silent_p.T234T			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	272					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CACTTGCCACCAATGCTCAAC	0.562000													18	59					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764510	77764510	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:77764510C>A	ENST00000521891.2	+	10	5801	c.5353C>A	c.(5353-5355)Caa>Aaa	p.Q1785K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1759K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1740K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1740K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1740	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATTCAAACCCAACATCACGT	0.512000										HNSCC(33;0.089)			6	9					0.00116845	0.00123235	1	1	0
NECAB3	63941	broad.mit.edu	37	20	32258534	32258534	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:32258534C>A	ENST00000246190.6	-	3	274	c.219G>T	c.(217-219)ggG>ggT	p.G73G	NECAB3_ENST00000375238.4_Silent_p.G73G	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	73					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						CCTGCAGCTCCCCCAGGCTGA	0.577000													16	34					2.48551e-13	3.20856e-13	1	1	0
CARD11	84433	broad.mit.edu	37	7	2952982	2952982	+	Missense_Mutation	SNP	C	C	A	rs137964164		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:2952982C>A	ENST00000396946.4	-	22	3361	c.2958G>T	c.(2956-2958)aaG>aaT	p.K986N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	986	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCACCAGCGTCTTGGCCAGCA	0.672000			Mis		DLBCL								77	105					1.63007e-36	2.74077e-36	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125103762	125103762	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:125103762G>T	ENST00000522917.1	+	34	4696	c.4490G>T	c.(4489-4491)gGg>gTg	p.G1497V	FER1L6_ENST00000399018.1_Missense_Mutation_p.G1497V|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1497						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTCACCCTGGGAAAATACAG	0.458000													25	129					3.6726e-16	4.94535e-16	1	1	0
WDR81	124997	broad.mit.edu	37	17	1640811	1640811	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:1640811C>T	ENST00000409644.1	+	10	5658	c.5658C>T	c.(5656-5658)acC>acT	p.T1886T	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.T659T|WDR81_ENST00000437219.2_Silent_p.T683T|WDR81_ENST00000446363.1_Silent_p.T525T|WDR81_ENST00000309182.5_Silent_p.T835T|WDR81_ENST00000545662.1_Silent_p.T517T	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	659										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCACTGGCACCGTGTCCAACA	0.612000													18	55					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68540865	68540865	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:68540865G>A	ENST00000265641.5	-	14	1762	c.1608C>T	c.(1606-1608)acC>acT	p.T536T	CPT1A_ENST00000540367.1_Silent_p.T536T|CPT1A_ENST00000539743.1_Silent_p.T536T|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Silent_p.T536T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	536					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GAAGATTTGCGGTGTTCAGGG	0.473000													48	12					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101183210	101183210	+	RNA	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:101183210C>T	ENST00000313669.7	+	0	676				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		GCCCTCCAGCCCGGACAACGA	0.627000													21	8					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57905789	57905789	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:57905789T>A	ENST00000262644.4	-	1	614	c.356A>T	c.(355-357)tAc>tTc	p.Y119F		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	119						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CTTGAGCAGGTAGAACATCTT	0.652000													10	30					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654640	159654640	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:159654640G>T	ENST00000297267.9	+	11	3296	c.3096G>T	c.(3094-3096)agG>agT	p.R1032S	FNDC1_ENST00000340366.6_Missense_Mutation_p.R969S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1032						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCAGCCCAGGCTCTCACTGA	0.736000													10	0					0.0581538	0.0590612	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56539326	56539326	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:56539326G>T	ENST00000390649.3	+	7	1727	c.1727G>T	c.(1726-1728)tGt>tTt	p.C576F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	576	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GACAGCCACTGTGAGGAGTAC	0.542000													13	17					1.05317e-09	1.26835e-09	1	1	0
ZIC4	84107	broad.mit.edu	37	3	147113925	147113925	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:147113925C>A	ENST00000383075.3	-	3	914	c.402G>T	c.(400-402)gcG>gcT	p.A134A	ZIC4_ENST00000425731.3_Silent_p.A172A|ZIC4_ENST00000525172.2_Silent_p.A184A|ZIC4_ENST00000484399.1_Silent_p.A134A|ZIC4_ENST00000473123.1_Silent_p.A134A|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	134						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGCCGTCGGCCGCCAGCCACT	0.652000													68	18					6.8682e-38	1.16231e-37	1	1	0
RPL5	6125	broad.mit.edu	37	1	93303069	93303069	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:93303069A>T	ENST00000370321.3	+	6	674	c.584A>T	c.(583-585)cAt>cTt	p.H195L		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	195					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GCAGAAGTACATCGGAAGCAC	0.348000													35	8					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50771567	50771567	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:50771567C>A	ENST00000403097.1	-	4	852	c.72G>T	c.(70-72)ccG>ccT	p.P24P	GRB10_ENST00000335866.3_5'UTR|GRB10_ENST00000402578.1_Intron|GRB10_ENST00000402497.1_5'UTR|GRB10_ENST00000398812.2_Silent_p.P30P|GRB10_ENST00000357271.5_Silent_p.P30P|GRB10_ENST00000398810.2_5'UTR|GRB10_ENST00000401949.1_Silent_p.P30P|GRB10_ENST00000406641.1_5'UTR|GRB10_ENST00000439599.1_Silent_p.P24P|GRB10_ENST00000407526.1_5'UTR			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	30					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CTGGTCCTGCCGGGTCTTGTT	0.522000									Russell-Silver syndrome				19	38					3.8784e-16	5.21348e-16	1	1	0
VAT1L	57687	broad.mit.edu	37	16	77896773	77896773	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:77896773G>T	ENST00000302536.2	+	4	861	c.708G>T	c.(706-708)gtG>gtT	p.V236V	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	236							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CAGACTACGTGCAAGAAGTTA	0.438000													32	66					3.86903e-22	5.75016e-22	1	1	0
FAM86JP	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													7	116					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173281	5173281	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:5173281G>A	ENST00000380367.1	-	2	736	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	OR52A1_ENST00000328942.1_Missense_Mutation_p.H107Y			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	107					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAATGTGTGGATGAACCAC	0.453000													10	13					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747418	121747418	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:121747418G>T	ENST00000452319.1	+	14	3988	c.3928G>T	c.(3928-3930)Gct>Tct	p.A1310S	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.A1310S			P10070	GLI2_HUMAN	GLI family zinc finger 2	1310					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCAGCCCTGGCTGGAGTGCC	0.652000													7	27					6.72482e-11	8.29714e-11	1	1	0
DIEXF	27042	broad.mit.edu	37	1	210015674	210015674	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:210015674G>T	ENST00000491415.2	+	9	1607	c.1550G>T	c.(1549-1551)cGg>cTg	p.R517L		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	517					multicellular organismal development	nucleus		p.R517L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TCTCGAGTGCGGATGTGGAGC	0.448000													26	47					2.44723e-14	3.20955e-14	1	1	0
PALLD	23022	broad.mit.edu	37	4	169632846	169632846	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:169632846A>G	ENST00000335742.7	+	10	1947	c.590A>G	c.(589-591)aAg>aGg	p.K197R	PALLD_ENST00000261509.6_Missense_Mutation_p.K579R|PALLD_ENST00000512127.1_Missense_Mutation_p.K197R|PALLD_ENST00000505667.1_Missense_Mutation_p.K579R			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	579					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TTGGCTTCAAAGAAACCATCT	0.493000									Pancreatic Cancer, Familial Clustering of				21	30					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766109	13766109	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:13766109T>A	ENST00000265104.4	-	59	10181	c.10077A>T	c.(10075-10077)gcA>gcT	p.A3359A	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3359	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAAGTTCCCTGCAGTCATCA	0.428000									Kartagener syndrome				92	123					0	0	1	0	0
LRRTM2	26045	broad.mit.edu	37	5	138209401	138209401	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:138209401G>T	ENST00000274711.6	-	2	1227	c.849C>A	c.(847-849)ctC>ctA	p.L283L	CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000520400.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	283						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTTATCCATGAGGAGTATTT	0.448000													79	127					7.62596e-35	1.26586e-34	1	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070634	32070634	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:32070634C>A	ENST00000566806.1	-	0	499																											TACACCTTCACCTACTGCTAC	0.517000													25	47					3.90053e-15	5.16762e-15	1	1	0
ACTC1	70	broad.mit.edu	37	15	35086943	35086943	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:35086943A>T	ENST00000290378.4	-	2	722	c.67T>A	c.(67-69)Ttt>Att	p.F23I	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	23					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCGCCCGCAAAGCCGGCCTTC	0.687000													86	21					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2539346	2539346	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:2539346G>C	ENST00000358864.1	+	3	342	c.327G>C	c.(325-327)gaG>gaC	p.E109D		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	109	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTTCCAGGAGCGGACAGCAG	0.627000													5	5					0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52005146	52005146	+	Missense_Mutation	SNP	G	G	T	rs141713369		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:52005146G>T	ENST00000395526.3	-	2	195	c.196C>A	c.(196-198)Cgc>Agc	p.R66S	ASAH2_ENST00000447815.1_Missense_Mutation_p.R66S|ASAH2_ENST00000329428.6_Missense_Mutation_p.R47S	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	66					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GCTGTGGAGCGTTGGGCAGCT	0.502000													13	56					4.36969e-10	5.29516e-10	1	1	0
PNO1	56902	broad.mit.edu	37	2	68400495	68400495	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:68400495G>A	ENST00000263657.2	+	6	728	c.637G>A	c.(637-639)Ggc>Agc	p.G213S		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	213	KH.					nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						TCACATCCTTGGCTCCTTCCA	0.428000													15	48					0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139943801	139943801	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:139943801G>A	ENST00000357560.4	-	1	473	c.30C>T	c.(28-30)atC>atT	p.I10I	APBB3_ENST00000511201.2_Silent_p.I10I|APBB3_ENST00000412920.3_Silent_p.I10I|APBB3_ENST00000507279.1_Intron|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000358580.5_Silent_p.I10I|APBB3_ENST00000354402.5_Silent_p.I10I|APBB3_ENST00000356738.2_Silent_p.I10I	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	10						actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCAGAATGATGGCCAGCA	0.642000													20	27					0	0	1	0	0
POP7	10248	broad.mit.edu	37	7	100304652	100304652	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:100304652T>A	ENST00000303151.4	+	2	461	c.199T>A	c.(199-201)Tct>Act	p.S67T		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	67					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAACGCGTGCTCTGAGATCTA	0.617000													82	136					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225024	158225024	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158225024G>T	ENST00000289429.5	+	2	742	c.209G>T	c.(208-210)tGg>tTg	p.W70L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	70				WS -> V (in Ref. 7; AAA51933).	antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CTGTGCCCCTGGTCCAGGGGA	0.483000													101	60					7.0407e-44	1.2152e-43	1	1	0
SLC9B1	150159	broad.mit.edu	37	4	103822388	103822388	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:103822388C>A	ENST00000296422.7	-	12	1575	c.1434G>T	c.(1432-1434)ttG>ttT	p.L478F	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	478						integral to membrane	solute:hydrogen antiporter activity										GAGCTGTGATCAAGATGGCTA	0.453000													42	373					6.61955e-31	1.06815e-30	1	1	0
KIRREL	55243	broad.mit.edu	37	1	158059259	158059259	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158059259G>T	ENST00000368172.1	+	5	466	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000368173.3_Missense_Mutation_p.G354C|KIRREL_ENST00000359209.6_Intron			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	348	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CAGGCCTCCTGGCTCCCCACC	0.612000													83	31					7.28744e-38	1.23192e-37	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975837	76975837	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:76975837T>C	ENST00000409911.1	-	3	1983	c.1760A>G	c.(1759-1761)gAg>gGg	p.E587G	LRRTM4_ENST00000409093.1_Missense_Mutation_p.E586G|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E586G	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	586						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCAATTCTCTCTAGGTAGAT	0.602000													41	134					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31384697	31384697	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:31384697G>T	ENST00000268296.4	+	20	2615	c.2494G>T	c.(2494-2496)Gtg>Ttg	p.V832L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V832L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	832					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTACCGCTACGTGGCAGAGGG	0.632000													18	45					1.87028e-06	2.09869e-06	1	1	0
PHF3	23469	broad.mit.edu	37	6	64394399	64394399	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:64394399C>G	ENST00000262043.3	+	4	1116	c.776C>G	c.(775-777)tCa>tGa	p.S259*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.S259*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.S259*			Q92576	PHF3_HUMAN	PHD finger protein 3	259					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCACTTCTTTCAGAGACTTGT	0.338000													26	112					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3831717	3831717	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:3831717G>A	ENST00000262961.4	-	4	549	c.539C>T	c.(538-540)gCt>gTt	p.A180V	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	180						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CACGATGGAAGCTGACGACTC	0.662000													7	10					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621450	171621450	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:171621450T>A	ENST00000037502.5	-	1	361	c.302A>T	c.(301-303)cAa>cTa	p.Q101L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	101					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAAGGTCAATTGGTGGAGGAG	0.617000													68	47					0	0	1	0	0
PES1	23481	broad.mit.edu	37	22	30974976	30974976	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:30974976C>A	ENST00000402281.1	-	16	2105	c.1114G>T	c.(1114-1116)Gtg>Ttg	p.V372L	PES1_ENST00000335214.6_Missense_Mutation_p.V506L|PES1_ENST00000402284.3_Missense_Mutation_p.V494L|PES1_ENST00000354694.6_Missense_Mutation_p.V511L|PES1_ENST00000405677.1_Missense_Mutation_p.V372L			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	511	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	p.V511M(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCTGCCATCACCCTGGGCTTC	0.612000													29	39					6.38683e-12	8.01948e-12	1	1	0
FAM110B	90362	broad.mit.edu	37	8	59059644	59059644	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:59059644G>T	ENST00000361488.3	+	5	1735	c.855G>T	c.(853-855)ccG>ccT	p.P285P	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	285						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GACTGGACCCGGAAGAGCTGG	0.512000													22	96					4.54149e-19	6.39657e-19	1	1	0
ERLIN1	10613	broad.mit.edu	37	10	101912068	101912068	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:101912068C>A	ENST00000421367.2	-	11	3574	c.867G>T	c.(865-867)caG>caT	p.Q289H	ERLIN1_ENST00000407654.3_Missense_Mutation_p.Q289H	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	287					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AAGCAATGGCCTGGTACTTTT	0.438000													50	42					4.96213e-28	7.79764e-28	1	1	0
MROH2B	133558	broad.mit.edu	37	5	41009441	41009441	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:41009441A>T	ENST00000399564.4	-	32	3811	c.3361T>A	c.(3361-3363)Tta>Ata	p.L1121I	MROH2B_ENST00000506092.2_Missense_Mutation_p.L676I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTGTCTATTAAGGCTTGCAAG	0.498000													48	158					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802567	67802567	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:67802567G>T	ENST00000544246.1	-	2	697	c.6C>A	c.(4-6)gaC>gaA	p.D2E	PCDH9_ENST00000328454.5_Missense_Mutation_p.D2E|PCDH9_ENST00000456367.1_Missense_Mutation_p.D2E|PCDH9_ENST00000377861.3_Missense_Mutation_p.D2E|PCDH9_ENST00000377865.2_Missense_Mutation_p.D2E	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	2					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AATCCCTCAGGTCCATGATAA	0.408000													15	25					1.5739e-10	1.92818e-10	1	1	0
POTEE	445582	broad.mit.edu	37	2	132021814	132021814	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:132021814C>A	ENST00000356920.5	+	15	2880	c.2786C>A	c.(2785-2787)aCg>aAg	p.T929K	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	929	Actin-like.						ATP binding										GAGATGGCCACGGCGGCCTCC	0.617000													8	328					2.85442e-18	3.9632e-18	1	1	0
OR4D5	219875	broad.mit.edu	37	11	123810874	123810874	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:123810874T>A	ENST00000307033.2	+	1	625	c.551T>A	c.(550-552)cTg>cAg	p.L184Q		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGCCTCAGCTGATCAAATTG	0.478000													92	104					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616693	77616693	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:77616693G>T	ENST00000521891.2	+	2	818	c.370G>T	c.(370-372)Gtg>Ttg	p.V124L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V124L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V124L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V124L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGACAGTGACGTGGAAAATCT	0.488000										HNSCC(33;0.089)			64	62					5.10508e-28	8.01421e-28	1	1	0
GALNT15	117248	broad.mit.edu	37	3	16237422	16237422	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:16237422T>A	ENST00000339732.5	+	2	1198	c.695T>A	c.(694-696)cTc>cAc	p.L232H	GALNT15_ENST00000437509.1_Missense_Mutation_p.L232H	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GTGGACGACCTCAGCCAGCAA	0.572000													40	10					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143558557	143558557	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:143558557C>G	ENST00000517894.1	+	5	2034	c.1140C>G	c.(1138-1140)ttC>ttG	p.F380L	BAI1_ENST00000323289.5_Missense_Mutation_p.F380L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	380	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCACGCGCTTCTGCGTGTCCT	0.697000													4	57					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476813	120476813	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:120476813G>C	ENST00000355622.6	+	3	2508	c.2407G>C	c.(2407-2409)Ggg>Cgg	p.G803R	TLR4_ENST00000394487.4_Missense_Mutation_p.G763R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	803	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CAGTGTCCTGGGGCGGCACAT	0.557000													39	78					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549330	33549330	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:33549330C>G	ENST00000504830.1	-	21	4619	c.4284G>C	c.(4282-4284)caG>caC	p.Q1428H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1343H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1428	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGGCTCCACCTGCCACGCCT	0.572000										HNSCC(64;0.19)			6	74					0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169166	60169166	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:60169166G>T	ENST00000261187.4	+	4	1254	c.1090G>T	c.(1090-1092)Gac>Tac	p.D364Y	SLC16A7_ENST00000552432.1_Missense_Mutation_p.D364Y|SLC16A7_ENST00000552024.1_Missense_Mutation_p.D364Y|SLC16A7_ENST00000547379.1_Missense_Mutation_p.D364Y|SLC16A7_ENST00000543448.1_Missense_Mutation_p.D265Y	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	364						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AACTCTCATGGACCTCGTGGG	0.498000													35	63					3.90053e-15	5.16762e-15	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112461007	112461007	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:112461007G>T	ENST00000230538.7	-	23	3454	c.3057C>A	c.(3055-3057)taC>taA	p.Y1019*	LAMA4_ENST00000424408.2_Nonsense_Mutation_p.Y1012*|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.Y1012*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.Y1012*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1019	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCTTAAAGTTGTACAAGCTGA	0.433000													49	14					2.56175e-15	3.40839e-15	1	1	0
LOC399815	399815	broad.mit.edu	37	10	124657313	124657313	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:124657313G>T	ENST00000425266.1	+	0	296																											TTCCAGAATGGAAGAGCAGCC	0.284000													3	0					1	1	1	1	0
ENO1	2023	broad.mit.edu	37	1	8931951	8931951	+	Splice_Site	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:8931951C>T	ENST00000234590.4	-	3	299	c.181_splice	c.e3+1	p.K60_splice		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	60	Epitope recognized by CAR antibodies.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AAGGCTTACCCTTCCCCATAT	0.572000											OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	80					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530050	5530050	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:5530050T>G	ENST00000311659.4	-	2	886	c.739A>C	c.(739-741)Att>Ctt	p.I247L	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	247										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCAGGAATGCTCTCCAAG	0.507000													58	15					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81974563	81974563	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:81974563G>T	ENST00000282701.2	+	3	1612	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	431					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.G431A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GTCGTTCCTGGGATTCCTGAG	0.393000													95	29					4.90379e-48	8.52026e-48	1	1	0
SENP7	57337	broad.mit.edu	37	3	101047363	101047363	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:101047363C>A	ENST00000394095.2	-	22	2876	c.2823G>T	c.(2821-2823)ttG>ttT	p.L941F	SENP7_ENST00000358203.3_Missense_Mutation_p.L777F|SENP7_ENST00000394085.3_Missense_Mutation_p.L129F|SENP7_ENST00000394091.1_Missense_Mutation_p.L777F|SENP7_ENST00000394094.2_Missense_Mutation_p.L876F|SENP7_ENST00000314261.7_Missense_Mutation_p.L875F|SENP7_ENST00000348610.3_Missense_Mutation_p.L908F	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	941	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGCAGCTTTCAAGGAGTCTA	0.313000													30	89					4.3949e-29	6.95525e-29	1	1	0
TAF4B	6875	broad.mit.edu	37	18	23861980	23861980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:23861980G>T	ENST00000269142.5	+	6	1926	c.928G>T	c.(928-930)Gaa>Taa	p.E310*	TAF4B_ENST00000400466.2_Nonsense_Mutation_p.E310*|TAF4B_ENST00000578121.1_Nonsense_Mutation_p.E310*	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	310	TAFH.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACTGTATGTTGAACTCAAGTC	0.333000													89	58					1.7666e-45	3.05584e-45	1	1	0
GHSR	2693	broad.mit.edu	37	3	172166154	172166154	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:172166154G>T	ENST00000241256.2	-	1	92	c.50C>A	c.(49-51)gCc>gAc	p.A17D	GHSR_ENST00000427970.1_Missense_Mutation_p.A17D	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	17					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTCCAGGTCGGCCAGTGTGAG	0.692000													25	16					4.4004e-07	5.02077e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179411104	179411104	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179411104C>T	ENST00000589042.1	-	342	95178	c.94954G>A	c.(94954-94956)Gga>Aga	p.G31652R	TTN_ENST00000359218.5_Missense_Mutation_p.G22712R|TTN_ENST00000342992.6_Missense_Mutation_p.G29084R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G30011R|TTN_ENST00000460472.2_Missense_Mutation_p.G22587R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22779R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30011	Fibronectin type-III 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G22712R(1)|p.G29082R(1)|p.G22587R(1)|p.G22779R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTGTCTCCTTTGGTCCAG	0.458000													55	73					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50671080	50671080	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:50671080G>A	ENST00000216373.5	-	2	409	c.135C>T	c.(133-135)ctC>ctT	p.L45L	SOS2_ENST00000543680.1_Silent_p.L45L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	45					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAATATAATAGAGAGACTCTT	0.328000													60	91					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186644482	186644482	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:186644482T>A	ENST00000367468.5	-	9	1440	c.1304A>T	c.(1303-1305)cAg>cTg	p.Q435L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	435					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.Q435L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	AATGGAAGCCTGTGATACTTT	0.393000													49	19					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1008175	1008175	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:1008175C>A	ENST00000234389.3	+	6	2370	c.2351C>A	c.(2350-2352)aCc>aAc	p.T784N		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	784					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TCGCCGCTCACCTCCAACCTG	0.662000													7	3					0.00198382	0.00207273	1	1	0
UBR5	51366	broad.mit.edu	37	8	103298773	103298773	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:103298773C>T	ENST00000520539.1	-	38	5636	c.5030G>A	c.(5029-5031)aGt>aAt	p.S1677N	UBR5_ENST00000220959.4_Missense_Mutation_p.S1677N|UBR5_ENST00000521922.1_Missense_Mutation_p.S1671N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1677	Poly-Ser.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTGACTACTACTGCTATCAGA	0.398000													28	47					0	0	1	0	0
FTH1	2495	broad.mit.edu	37	11	61732207	61732207	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:61732207C>G	ENST00000273550.7	-	4	778	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000526640.1_Missense_Mutation_p.E152Q|FTH1_ENST00000532601.1_Missense_Mutation_p.E112Q|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	182				LGDSDNES -> WETVIMKAKPRANFP (in Ref. 1; CAA25086).	cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCTTAGCTTTCATTATCACTG	0.517000													42	34					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76130988	76130988	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:76130988G>T	ENST00000318430.5	+	9	1399	c.1025G>T	c.(1024-1026)gGg>gTg	p.G342V	TMC8_ENST00000589691.1_Missense_Mutation_p.G119V	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	342						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CTGCCCCCTGGGGTCATCGCC	0.642000													39	33					4.01765e-15	5.31828e-15	1	1	0
RGPD4	285190	broad.mit.edu	37	2	108488444	108488444	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:108488444A>G	ENST00000408999.3	+	20	4061	c.3984A>G	c.(3982-3984)gaA>gaG	p.E1328E	RGPD4_ENST00000354986.4_Silent_p.E1328E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1328					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTCAAGAAGAAGAGAGAGATG	0.403000													122	231					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96291056	96291056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:96291056G>T	ENST00000225235.4	+	12	2208	c.2098G>T	c.(2098-2100)Gga>Tga	p.G700*	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	700						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				ATTTAGGACTGGATTAGGAAT	0.383000													76	47					2.10938e-32	3.43214e-32	1	1	0
CWC27	10283	broad.mit.edu	37	5	64070589	64070589	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:64070589A>G	ENST00000508024.1	+	2	315	c.114A>G	c.(112-114)agA>agG	p.R38R	CWC27_ENST00000381070.3_Silent_p.R38R			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	38	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAGCTTGCAGAAATTTTATCC	0.308000													21	36					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60156909	60156909	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:60156909G>C	ENST00000358246.1	+	4	444	c.251G>C	c.(250-252)gGa>gCa	p.G84A	MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.G129A|MS4A7_ENST00000534016.1_Missense_Mutation_p.G84A	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	129						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GTTACTGCAGGAGCAGGCCTC	0.493000													13	25					0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95255746	95255746	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:95255746C>T	ENST00000295256.5	-	2	125	c.35G>A	c.(34-36)aGg>aAg	p.R12K	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	12	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TGCTCTCCCCCTCATATTAAA	0.368000													26	9					0	0	1	0	0
SLC35F6	54978	broad.mit.edu	37	2	26998466	26998466	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:26998466G>A	ENST00000344420.5	+	4	519	c.457G>A	c.(457-459)Gcg>Acg	p.A153T	SLC35F6_ENST00000482746.1_3'UTR|CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.A70T	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		AGCCACCATCGCGGGGCTGGT	0.652000													17	13					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85211157	85211157	+	Splice_Site	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:85211157C>G	ENST00000357749.2	-	8	1196		c.e8+1		CHM_ENST00000537751.1_Splice_Site|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)						intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GGCAAACTTACCTGCAGAAAC	0.373000													18	25					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542977	14542977	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:14542977G>C	ENST00000358970.5	-	1	168	c.169C>G	c.(169-171)Ctc>Gtc	p.L57V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	57										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCCTGAGCATCTTCATA	0.587000													60	385					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054308	95054308	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:95054308C>G	ENST00000329597.7	+	3	819	c.609C>G	c.(607-609)atC>atG	p.I203M	SERPINA5_ENST00000553780.1_Missense_Mutation_p.I203M|SERPINA5_ENST00000554866.1_Missense_Mutation_p.I203M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.I203M	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	203					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGAATTACATCTTCTTTAAAG	0.418000													41	65					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144320280	144320280	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:144320280C>G	ENST00000360057.3	-	6	435	c.333G>C	c.(331-333)aaG>aaC	p.K111N	TPK1_ENST00000378099.3_Missense_Mutation_p.K111N|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.K106N|TPK1_ENST00000547966.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	111					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TTTCTTCTATCTTCTTTTGGA	0.328000													79	57					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24498511	24498511	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:24498511C>A	ENST00000264463.4	-	9	2018	c.1511G>T	c.(1510-1512)gGg>gTg	p.G504V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	504	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCTTACCTGCCCTGGTCTGGC	0.393000										HNSCC(23;0.051)			22	73					3.5997e-14	4.71706e-14	1	1	0
SP7	121340	broad.mit.edu	37	12	53722324	53722324	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:53722324C>A	ENST00000536324.2	-	3	1185	c.902G>T	c.(901-903)tGc>tTc	p.C301F	SP7_ENST00000303846.3_Missense_Mutation_p.C301F|SP7_ENST00000537210.2_Missense_Mutation_p.C283F	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CACCTTGCCGCAGCCAGGGAT	0.642000													41	9					2.2871e-25	3.49896e-25	1	1	0
GALNT8	26290	broad.mit.edu	37	12	4872479	4872479	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:4872479T>C	ENST00000252318.2	+	8	1757	c.1420T>C	c.(1420-1422)Tgt>Cgt	p.C474R		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	474						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AAAACTGAAATGTAAAACTTT	0.388000													55	9					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454419	110454419	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:110454419C>A	ENST00000378402.5	+	35	4492	c.4388C>A	c.(4387-4389)aCa>aAa	p.T1463K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1463	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAAATCTACATCAGGTATG	0.328000										HNSCC(38;0.096)			30	16					2.70662e-09	3.23965e-09	1	1	0
MYH2	4620	broad.mit.edu	37	17	10426979	10426979	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:10426979G>T	ENST00000245503.5	-	37	5690	c.5306C>A	c.(5305-5307)gCc>gAc	p.A1769D	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1769D|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1769					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCCATCATGGCGGCCTAAAT	0.488000													94	66					2.1459e-41	3.67533e-41	1	1	0
RXFP2	122042	broad.mit.edu	37	13	32335879	32335879	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:32335879C>T	ENST00000298386.2	+	3	331	c.260C>T	c.(259-261)gCg>gTg	p.A87V	RXFP2_ENST00000380314.1_Missense_Mutation_p.A87V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	87						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGTGGATGGGCGACCATATTT	0.383000													25	29					0	0	1	0	0
NBPF22P	285622	broad.mit.edu	37	5	85592177	85592177	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:85592177C>A	ENST00000590707.1	+	0	1476					NR_003719.2																						AACTAAAACGCAAAGCAAGTT	0.408000													4	9					0.00024832	0.000264943	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76528962	76528962	+	Splice_Site	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:76528962T>C	ENST00000307431.8	+	15	2618	c.2234_splice	c.e15+1	p.W745_splice	CNTNAP4_ENST00000478060.1_Splice_Site_p.W673_splice|CNTNAP4_ENST00000377504.4_Splice_Site_p.W697_splice|CNTNAP4_ENST00000476707.1_Splice_Site_p.W749_splice|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	746	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCGGAATGAATGGTGATTTCC	0.358000													69	20					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103761	125103761	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:125103761G>T	ENST00000522917.1	+	34	4695	c.4489G>T	c.(4489-4491)Ggg>Tgg	p.G1497W	FER1L6_ENST00000399018.1_Missense_Mutation_p.G1497W|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1497						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTTCACCCTGGGAAAATACA	0.458000													25	128					3.6726e-16	4.94535e-16	1	1	0
RYR2	6262	broad.mit.edu	37	1	237774162	237774162	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:237774162T>G	ENST00000366574.2	+	36	5101	c.4784T>G	c.(4783-4785)cTg>cGg	p.L1595R	RYR2_ENST00000542537.1_Missense_Mutation_p.L1579R|RYR2_ENST00000360064.6_Missense_Mutation_p.L1593R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1595	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCACACGTCCTGTGGAGCAGA	0.547000													11	13					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151914347	151914347	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:151914347C>A	ENST00000367290.5	+	8	1488	c.1399C>A	c.(1399-1401)Cag>Aag	p.Q467K	CCDC170_ENST00000239374.7_Missense_Mutation_p.Q467K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	467																	TCGAACAGAGCAGCTGGTTCG	0.448000													40	9					3.09479e-21	4.53476e-21	1	1	0
KIAA1468	57614	broad.mit.edu	37	18	59925185	59925185	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:59925185A>G	ENST00000256858.6	+	14	2149	c.1901A>G	c.(1900-1902)gAa>gGa	p.E634G	KIAA1468_ENST00000398130.2_Missense_Mutation_p.E634G			Q9P260	K1468_HUMAN	KIAA1468	634							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTTCAGAAAGAAATCCGTAGC	0.318000													7	22					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921099	247921099	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:247921099C>G	ENST00000408896.2	-	1	883	c.610G>C	c.(610-612)Ggt>Cgt	p.G204R		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	204				G -> D (in Ref. 5 and 6).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G204C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCCAATAGACCTCCTACTGCA	0.458000													26	11					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64031509	64031509	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:64031509G>T	ENST00000540288.1	+	22	2680	c.2577G>T	c.(2575-2577)ctG>ctT	p.L859L	PLCB3_ENST00000279230.6_Silent_p.L859L|PLCB3_ENST00000325234.5_Silent_p.L792L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	859					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CGGAGGCCCTGATCAACCCCA	0.652000													31	109					8.4185e-14	1.09947e-13	1	1	0
SLC10A2	6555	broad.mit.edu	37	13	103710719	103710719	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:103710719T>C	ENST00000245312.3	-	2	987	c.391A>G	c.(391-393)Aca>Gca	p.T131A		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	131					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTGGAGCATGTGGTCATGCTG	0.433000													22	8					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158912012	158912012	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158912012C>T	ENST00000368140.1	+	5	1070	c.825C>T	c.(823-825)tcC>tcT	p.S275S	PYHIN1_ENST00000368138.3_Silent_p.S266S|PYHIN1_ENST00000392252.3_Silent_p.S266S|PYHIN1_ENST00000392254.2_Silent_p.S275S|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	275	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAAATTATTCCAAACGTAATA	0.383000													35	41					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011275	78011275	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:78011275C>A	ENST00000435339.2	+	2	1314	c.909C>A	c.(907-909)aaC>aaA	p.N303K	LPAR4_ENST00000373301.2_Missense_Mutation_p.N303K	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	303						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.N303K(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CAACTCTGAACTGTTGTTTTG	0.423000													27	96					7.38237e-10	8.91133e-10	1	1	0
SMYD3	64754	broad.mit.edu	37	1	246021808	246021808	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:246021808C>T	ENST00000490107.1	-	10	1105	c.889G>A	c.(889-891)Gag>Aag	p.E297K	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000388985.4_Missense_Mutation_p.E356K|SMYD3_ENST00000541742.1_Missense_Mutation_p.E297K	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	356						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CTGTATGGCTCCATGGTCCGA	0.522000													8	24					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996507	140996507	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:140996507C>A	ENST00000285879.4	+	4	3603	c.3317C>A	c.(3316-3318)gCt>gAt	p.A1106D	MAGEC1_ENST00000406005.2_Missense_Mutation_p.A173D	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1106	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TACAAGGATGCTTTGAAAGAT	0.458000										HNSCC(15;0.026)			50	37					1.51926e-22	2.26439e-22	1	1	0
AMER3	205147	broad.mit.edu	37	2	131520160	131520160	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:131520160A>T	ENST00000423981.1	+	2	625	c.515A>T	c.(514-516)gAg>gTg	p.E172V	AMER3_ENST00000321420.4_Missense_Mutation_p.E172V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AACAAGACTGAGGACTTGGCC	0.627000													61	69					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35333195	35333195	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:35333195G>A	ENST00000373347.1	-	10	2787	c.2519C>T	c.(2518-2520)aCa>aTa	p.T840I	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T840I			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	840					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GAGAAGTTGTGTGCTGCCCAC	0.522000													111	104					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087116	9087116	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:9087116C>A	ENST00000397910.4	-	1	4902	c.4699G>T	c.(4699-4701)Gtg>Ttg	p.V1567L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1567	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTGTCACGTGAGTAGGA	0.502000													105	27					1.64436e-45	2.84755e-45	1	1	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158712	26158712	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:26158712G>A	ENST00000289316.2	+	1	339	c.315G>A	c.(313-315)ggG>ggA	p.G105G	HIST1H2BD_ENST00000377777.4_Silent_p.G105G	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	105					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TGCTTCCGGGGGAGCTGGCCA	0.607000													35	152					0	0	1	0	0
CAPN1	823	broad.mit.edu	37	11	64974041	64974041	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:64974041C>T	ENST00000527323.1	+	12	1701	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	CAPN1_ENST00000533820.1_Silent_p.F487F|CAPN1_ENST00000533129.1_Silent_p.F487F|CAPN1_ENST00000279247.6_Silent_p.F487F|CAPN1_ENST00000524773.1_Silent_p.F487F			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	487	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCACCCGCTTCCGCCTGCCAC	0.627000													43	84					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38310857	38310857	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:38310857G>T	ENST00000553443.1	+	30	5506	c.5506G>T	c.(5506-5508)Gag>Tag	p.E1836*	TTC6_ENST00000267368.7_Nonsense_Mutation_p.E470*|TTC6_ENST00000476979.1_Nonsense_Mutation_p.E470*|TTC6_ENST00000382320.3_3'UTR					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TGAACTAGCTGAGGAAGACCT	0.328000													3	17					0.115264	0.116608	1	1	0
CDH20	28316	broad.mit.edu	37	18	59195219	59195219	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:59195219A>G	ENST00000262717.4	+	7	1435	c.1037A>G	c.(1036-1038)aAg>aGg	p.K346R	CDH20_ENST00000538374.1_Missense_Mutation_p.K346R|CDH20_ENST00000536675.2_Missense_Mutation_p.K346R			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	346	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTGAAAGCAAGAAAAGCTAC	0.438000													17	27					0	0	1	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179350367	179350367	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179350367G>T	ENST00000234453.4	+	2	442		c.e2-1		PLEKHA3_ENST00000461474.1_Splice_Site	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GGTCTTTTTAGGCTGGCAGCC	0.373000													33	76					9.04072e-19	1.26311e-18	1	1	0
GAB4	128954	broad.mit.edu	37	22	17446138	17446138	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:17446138G>T	ENST00000400588.1	-	7	1416	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	437										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TTGTTTCTCAGGTTGGGCGGT	0.547000													20	28					1.96292e-10	2.39538e-10	1	1	0
IDS	3423	broad.mit.edu	37	X	148579784	148579784	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:148579784C>A	ENST00000340855.6	-	5	771	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L	AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370443.4_Missense_Mutation_p.V188L|IDS_ENST00000370441.4_Missense_Mutation_p.V188L	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	188						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACATCCAGCACATCCACAGGG	0.458000													16	10					1.15088e-07	1.33062e-07	1	1	0
POU3F4	5456	broad.mit.edu	37	X	82763662	82763662	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:82763662C>A	ENST00000373200.2	+	1	394	c.330C>A	c.(328-330)caC>caA	p.H110Q	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	110					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						ACACTAACCACCCCAACGCCT	0.657000													17	25					3.41278e-10	4.14523e-10	1	1	0
ADD2	119	broad.mit.edu	37	2	70903900	70903900	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:70903900C>G	ENST00000413157.2	-	13	2100	c.1621G>C	c.(1621-1623)Ggg>Cgg	p.G541R	ADD2_ENST00000407644.2_Intron|ADD2_ENST00000264436.3_Intron|ADD2_ENST00000355733.3_Intron|ADD2_ENST00000430656.1_Missense_Mutation_p.G557R	NM_017482.3	NP_059516.2	P35612	ADDB_HUMAN	adducin 2 (beta)	542					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CACGTTTCCCCGCCAGTCAGG	0.632000													25	22					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55112231	55112231	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:55112231G>T	ENST00000453777.1	+	8	989	c.819G>T	c.(817-819)gtG>gtT	p.V273V	LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Silent_p.V473V|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	473	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGTCCTGGTGGTCCTCGGGA	0.562000													41	10					8.16277e-20	1.16975e-19	1	1	0
KCNK12	56660	broad.mit.edu	37	2	47748786	47748786	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:47748786G>A	ENST00000327876.3	-	2	1160	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	MSH2_ENST00000461394.1_Intron	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	185						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.0?(2)|p.?(2)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCGCTGCGGCGCAGCTGGCGC	0.701000													10	15					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	27064616	27064616	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:27064616C>A	ENST00000267422.7	-	0	279				NOVA1_ENST00000547619.1_Splice_Site_p.G94_splice|NOVA1_ENST00000344429.5_Splice_Site_p.G94_splice|NOVA1_ENST00000539517.2_Splice_Site_p.G94_splice|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000574031.1_Splice_Site_p.G94_splice|NOVA1_ENST00000465357.2_Splice_Site_p.G94_splice			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1						locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTGCACCTACCTGGGTAAAAA	0.408000													23	90					7.41877e-09	8.78634e-09	1	1	0
CHD7	55636	broad.mit.edu	37	8	61654194	61654194	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:61654194A>G	ENST00000423902.2	+	2	682	c.203A>G	c.(202-204)cAt>cGt	p.H68R	CHD7_ENST00000524602.1_Missense_Mutation_p.H68R|CHD7_ENST00000525508.1_Missense_Mutation_p.H68R	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	68					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGCTGACACATTTTGATCAC	0.438000													10	8					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356726	104356726	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:104356726G>T	ENST00000374806.1	-	1	557	c.487C>A	c.(487-489)Ctg>Atg	p.L163M	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	160	EF-hand 4.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TGGATCTCCAGGTCTCTGACC	0.483000													50	20					2.64514e-33	4.34459e-33	1	1	0
MAGI1	9223	broad.mit.edu	37	3	65342327	65342327	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:65342327C>T	ENST00000402939.2	-	23	4114	c.4115G>A	c.(4114-4116)cGg>cAg	p.R1372Q	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1401					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.R1372Q(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCCAGAGACCGTCTCCGCCG	0.711000													65	19					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120939	47120939	+	Translation_Start_Site	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:47120939T>C	ENST00000298283.3	-	1	89	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	1					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CGGCGCCCCATGGCGACACAG	0.562000													35	55					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41550864	41550864	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:41550864C>T	ENST00000400454.1	-	15	3414	c.2937G>A	c.(2935-2937)gcG>gcA	p.A979A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	979					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGCCTCGTCCGCCGTGATGG	0.582000													13	51					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807468	143807468	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:143807468C>A	ENST00000408979.2	+	1	862	c.793C>A	c.(793-795)Caa>Aaa	p.Q265K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGACTCTAATCAACGAGAGGA	0.512000													124	125					1.87168e-64	3.34122e-64	1	1	0
FPGT	8790	broad.mit.edu	37	1	74670181	74670181	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:74670181G>T	ENST00000370898.2	+	4	487	c.450G>T	c.(448-450)atG>atT	p.M150I	FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_Intron|FPGT_ENST00000467578.2_3'UTR|FPGT_ENST00000524915.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AACTAGCCATGTACATTGATT	0.358000													65	12					1.88225e-35	3.14111e-35	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42048659	42048659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:42048659C>A	ENST00000372584.1	-	3	2824	c.1810G>T	c.(1810-1812)Gag>Tag	p.E604*	HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.E604*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.E604*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.E604*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	604	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCAGGCTCCTCAGAACTGTAT	0.562000													38	82					1.69901e-12	2.15061e-12	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8525010	8525010	+	Silent	SNP	T	T	C	rs139263637		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:8525010T>C	ENST00000381196.4	-	15	1137	c.594A>G	c.(592-594)gaA>gaG	p.E198E	PTPRD_ENST00000486161.1_Silent_p.E198E|PTPRD_ENST00000356435.5_Silent_p.E198E|PTPRD_ENST00000355233.5_Silent_p.E198E|PTPRD_ENST00000397606.3_Silent_p.E192E|PTPRD_ENST00000397611.3_Silent_p.E195E|PTPRD_ENST00000397617.3_Silent_p.E192E|PTPRD_ENST00000540109.1_Silent_p.E198E|PTPRD_ENST00000360074.4_Silent_p.E189E|PTPRD_ENST00000537002.1_Silent_p.E195E|PTPRD_ENST00000358503.5_Silent_p.E189E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	198	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTCAGACTCTTCACTCTGCT	0.433000										TSP Lung(15;0.13)			160	103					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611704	179611704	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179611704G>T	ENST00000360870.5	-	46	15645	c.15423C>A	c.(15421-15423)gaC>gaA	p.D5141E	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1042	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTGTACCGTCTTCCCTTT	0.443000													69	97					1.43987e-31	2.32823e-31	1	1	0
FAT2	2196	broad.mit.edu	37	5	150932752	150932752	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:150932752C>A	ENST00000261800.5	-	5	4154	c.4142G>T	c.(4141-4143)tGg>tTg	p.W1381L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1381	Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGTTGAACCAGAAGAGTCC	0.552000													18	48					3.51602e-12	4.43262e-12	1	1	0
NT5C1A	84618	broad.mit.edu	37	1	40125073	40125073	+	Missense_Mutation	SNP	C	C	T	rs148676406		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:40125073C>T	ENST00000235628.1	-	6	826	c.827G>A	c.(826-828)cGt>cAt	p.R276H		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	276					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAAGTAGGTACGAATTGGGCA	0.587000													37	112					0	0	1	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11253669	11253669	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:11253669C>A	ENST00000376819.3	+	3	749	c.510C>A	c.(508-510)ggC>ggA	p.G170G	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	170	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CAGGCGGAGGCTGGACCATCA	0.577000													32	10					3.62531e-18	5.02015e-18	1	1	0
BMI1	648	broad.mit.edu	37	10	22618355	22618355	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:22618355A>T	ENST00000376663.3	+	10	1370	c.865A>T	c.(865-867)Att>Ttt	p.I289F	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.I432F	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTTTCCTCACATTTCCAGTAC	0.498000													78	87					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3447943	3447943	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:3447943C>T	ENST00000301365.4	-	4	372	c.241G>A	c.(241-243)Gat>Aat	p.D81N	TRPV3_ENST00000576742.1_Missense_Mutation_p.D81N|TRPV3_ENST00000572519.1_Missense_Mutation_p.D81N			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	81						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCCATGTCATCACAGTTACCA	0.557000													11	25					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105184934	105184934	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:105184934G>T	ENST00000369797.3	+	20	3051	c.2957G>T	c.(2956-2958)gGa>gTa	p.G986V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	986					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAGAACCAGGAGTGACTGGC	0.557000													20	49					2.94398e-08	3.44974e-08	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725527	140725527	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140725527G>C	ENST00000253812.6	+	1	1927	c.1927G>C	c.(1927-1929)Gtg>Ctg	p.V643L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAGCCTCGTGGTGGCCGT	0.711000													56	83					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440715	99440715	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:99440715C>T	ENST00000287042.4	+	2	858	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	KCNS2_ENST00000521839.1_Missense_Mutation_p.R170C	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	170						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CGGCAACTTCCGCAGGCAGCT	0.602000													23	44					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517988	138517988	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:138517988C>A	ENST00000371763.1	-	4	437	c.184G>T	c.(184-186)Gac>Tac	p.D62Y		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	62					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ACCCGCCTGTCGAAAGTCCCT	0.507000													55	11					2.50483e-33	4.11846e-33	1	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72027179	72027179	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:72027179T>A	ENST00000378743.3	-	13	2908	c.2550A>T	c.(2548-2550)ttA>ttT	p.L850F		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	850					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTGTTGCACTAAATTCTTTA	0.308000													5	4					0	0	1	0	0
CLEC9A	283420	broad.mit.edu	37	12	10205330	10205330	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:10205330C>T	ENST00000355819.1	+	4	657	c.44C>T	c.(43-45)cCa>cTa	p.P15L	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	15					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TGGGATAGCCCAGCACCAGAC	0.418000													32	9					0	0	1	0	0
TGFA	7039	broad.mit.edu	37	2	70680406	70680406	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:70680406T>C	ENST00000295400.6	-	5	666	c.419A>G	c.(418-420)cAc>cGc	p.H140R	TGFA_ENST00000418333.2_Missense_Mutation_p.H139R|TGFA_ENST00000450929.1_Missense_Mutation_p.H145R|TGFA_ENST00000445399.1_Missense_Mutation_p.H139R|TGFA_ENST00000444975.1_Missense_Mutation_p.H146R	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	140					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGGCTTCTCGTGCCGGCAGAT	0.597000													59	148					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113484824	113484824	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:113484824C>A	ENST00000297405.5	-	32	5635	c.5391G>T	c.(5389-5391)gaG>gaT	p.E1797D	CSMD3_ENST00000343508.3_Missense_Mutation_p.E1757D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1693D|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1797D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1797	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTACCAAACTCCTTTGGAA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	73					1.28384e-07	1.48106e-07	1	1	0
PRG4	10216	broad.mit.edu	37	1	186269342	186269342	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:186269342G>A	ENST00000445192.2	+	3	241	c.196G>A	c.(196-198)Gcg>Acg	p.A66T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.A66T|PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.A66T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	66	SMB 1.|SMB 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGTCTGCACTGCGGGTAAGTC	0.542000													33	58					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105752385	105752385	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:105752385A>T	ENST00000369755.3	+	3	890	c.345A>T	c.(343-345)gcA>gcT	p.A115A	SLK_ENST00000335753.4_Silent_p.A115A	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	115	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGGTGGAGCAGTAGATGCTG	0.299000													3	14					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11441484	11441484	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:11441484A>G	ENST00000423059.3	-	23	4600	c.4349T>C	c.(4348-4350)aTa>aCa	p.I1450T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1450	TSP type-1 15.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TAGTTCTTGTATAATCACCGG	0.443000										HNSCC(18;0.044)			21	69					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504142	66504142	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:66504142G>T	ENST00000360242.5	+	2	259	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	CCDC102B_ENST00000358653.5_Missense_Mutation_p.G48W|CCDC102B_ENST00000319445.6_Missense_Mutation_p.G48W|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.G48W	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	48										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCCACTTCATGGGCTACAATC	0.483000													45	74					1.41504e-22	2.11308e-22	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24909211	24909211	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:24909211C>A	ENST00000396432.2	-	9	2099	c.1613G>T	c.(1612-1614)cGa>cTa	p.R538L	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R325L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	537					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACAAATACCTCGTCTATCATC	0.393000													53	67					1.07234e-20	1.55959e-20	1	1	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14183723	14183723	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:14183723G>T	ENST00000581935.1	+	0	574																				lung(3)	3						GAAAATGCCAGATTGATATCT	0.383000													89	163					1.31458e-49	2.2866e-49	1	1	0
ASPA	443	broad.mit.edu	37	17	3379518	3379518	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:3379518G>C	ENST00000263080.2	+	1	223	c.65G>C	c.(64-66)gGg>gCg	p.G22A	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.G22A	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	22					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	GGAACCCATGGGAATGAGCTA	0.408000													48	99					0	0	1	0	0
TMPRSS5	80975	broad.mit.edu	37	11	113558997	113558997	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:113558997C>A	ENST00000299882.5	-	13	1508		c.e13-1		TMPRSS5_ENST00000544634.1_Splice_Site|TMPRSS5_ENST00000536856.1_Splice_Site|TMPRSS5_ENST00000538955.1_Splice_Site|TMPRSS5_ENST00000544476.1_Splice_Site|TMPRSS5_ENST00000540540.1_Splice_Site|TMPRSS5_ENST00000545579.1_Splice_Site	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5						proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		ggagggagtcctagaccaaaa	0.507000													5	1					1.23904e-05	1.36487e-05	1	1	0
GRIK1	2897	broad.mit.edu	37	21	30949366	30949366	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:30949366A>C	ENST00000399914.1	-	13	2524	c.2003T>G	c.(2002-2004)aTa>aGa	p.I668R	GRIK1_ENST00000389124.2_Missense_Mutation_p.I683R|GRIK1_ENST00000309434.7_Missense_Mutation_p.I685R|GRIK1_ENST00000399907.1_Missense_Mutation_p.I683R|GRIK1_ENST00000535441.1_Missense_Mutation_p.I685R|GRIK1_ENST00000327783.4_Missense_Mutation_p.I683R|GRIK1_ENST00000399913.1_Missense_Mutation_p.I683R|GRIK1_ENST00000389125.3_Missense_Mutation_p.I668R|GRIK1_ENST00000399909.1_Missense_Mutation_p.I668R			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	683					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TGCCGAATCTATGGGGGATTC	0.443000													32	123					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815460	43815460	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:43815460C>T	ENST00000382031.1	+	5	2534	c.2503C>T	c.(2503-2505)Cca>Tca	p.P835S	MAP1A_ENST00000399453.1_Missense_Mutation_p.P597S|MAP1A_ENST00000300231.5_Missense_Mutation_p.P597S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	597						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGCTTGTCCCAGAGGTCCC	0.542000													13	3					0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100058764	100058764	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:100058764A>T	ENST00000394140.3	+	3	323	c.232A>T	c.(232-234)Ata>Tta	p.I78L		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	78	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GGAATGCAGCATATATCTCAT	0.413000													20	63					0	0	1	0	0
C10orf82	143379	broad.mit.edu	37	10	118425119	118425119	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:118425119C>A	ENST00000369210.3	-	3	328	c.274_splice	c.e3+1	p.E92_splice	C10orf82_ENST00000588184.1_Splice_Site_p.E92_splice	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	92										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GCGCTGCTACCCAGGATCAGG	0.612000													20	65					0.00188189	0.00197814	1	1	0
SPTLC3	55304	broad.mit.edu	37	20	13055014	13055014	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:13055014T>A	ENST00000399002.2	+	4	750	c.476T>A	c.(475-477)aTc>aAc	p.I159N	SPTLC3_ENST00000378194.4_Missense_Mutation_p.I159N	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	159					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGAAGAGTCATCAAAGATGTC	0.438000													139	12					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355264	175355264	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:175355264C>A	ENST00000367674.1	-	8	2389	c.1681G>T	c.(1681-1683)Gtg>Ttg	p.V561L	TNR_ENST00000263525.2_Missense_Mutation_p.V561L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	561	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGGCCTGCACTGAGTATTGG	0.587000													36	60					2.42023e-17	3.30744e-17	1	1	0
KAT2B	8850	broad.mit.edu	37	3	20164264	20164264	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:20164264A>T	ENST00000263754.4	+	9	1836	c.1381A>T	c.(1381-1383)Atc>Ttc	p.I461F		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	461					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TATGTCTACCATCACGGACCC	0.517000													13	44					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52160863	52160863	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:52160863G>C	ENST00000282588.6	+	5	901	c.443G>C	c.(442-444)tGt>tCt	p.C148S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	148					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACTGGAATCTGTTCTGACGTC	0.373000													25	110					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65303735	65303735	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:65303735C>T	ENST00000524944.1	+	12	1614	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SCYL1_ENST00000525364.1_Silent_p.F527F|SCYL1_ENST00000527630.1_Silent_p.F527F|SCYL1_ENST00000279270.6_Silent_p.F527F|SCYL1_ENST00000527009.1_Silent_p.F384F|SCYL1_ENST00000270176.5_Silent_p.F527F|SCYL1_ENST00000533862.1_Silent_p.F527F|SCYL1_ENST00000420247.2_Silent_p.F527F			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	527					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CACAGGCCTTCAAGGCCATTC	0.607000													26	69					0	0	1	0	0
LY6D	8581	broad.mit.edu	37	8	143866675	143866675	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:143866675G>T	ENST00000301263.4	-	3	424	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	117					cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGGAGGCTCAGGGCCAGCCCC	0.657000													11	58					0.0135373	0.0138657	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140669663	140669663	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:140669663A>G	ENST00000460843.1	+	11	1777	c.1750A>G	c.(1750-1752)Aag>Gag	p.K584E	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.K553E|EHMT1_ENST00000462484.1_Missense_Mutation_p.K584E	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	584					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCGCATGGTGAAGCACCAGTG	0.632000													10	24					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975457	44975457	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:44975457T>C	ENST00000340446.4	-	1	1025	c.734A>G	c.(733-735)gAa>gGa	p.E245G		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	245						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCAGAACCTTCTTGTACAAC	0.408000													22	29					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95183122	95183122	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:95183122A>T	ENST00000027335.3	-	8	999	c.875T>A	c.(874-876)aTt>aAt	p.I292N	CDH17_ENST00000450165.2_Missense_Mutation_p.I292N|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	292	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGTCACGTAAATATCTCCTTC	0.463000													37	94					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31843870	31843870	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:31843870C>A	ENST00000229729.6	-	3	146	c.126G>T	c.(124-126)ctG>ctT	p.L42L	SLC44A4_ENST00000544672.1_5'UTR|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Silent_p.L42L	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	42						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GAATGAAGAGCAGGAAGAGGA	0.562000													18	29					5.03518e-11	6.23214e-11	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767279	77767279	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:77767279A>G	ENST00000521891.2	+	10	8570	c.8122A>G	c.(8122-8124)Agc>Ggc	p.S2708G	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2682G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2663G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2663G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2663						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGCAGGTTACAGCTTGCCACC	0.458000										HNSCC(33;0.089)			24	21					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207186	121207186	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:121207186T>A	ENST00000264233.5	-	16	4720	c.4592A>T	c.(4591-4593)gAc>gTc	p.D1531V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1531					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTAATTAGGTCTTCTTGTAG	0.318000								DNA polymerases (catalytic subunits)					38	10					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104261	168104261	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:168104261C>A	ENST00000409195.1	+	9	6448	c.6359C>A	c.(6358-6360)aCc>aAc	p.T2120N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2120N|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1898N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1945	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGGTAAAACCGTTGGAAAG	0.353000													32	44					7.11191e-15	9.38243e-15	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167095997	167095997	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:167095997C>A	ENST00000361200.2	+	6	1795	c.1629C>A	c.(1627-1629)gcC>gcA	p.A543A	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.A543A|DUSP27_ENST00000271385.5_Silent_p.A543A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	543					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.A543A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCTCACTGCCCTGGAAAGAT	0.552000													33	92					5.6714e-07	6.46151e-07	1	1	0
POLR1E	64425	broad.mit.edu	37	9	37498216	37498216	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:37498216G>A	ENST00000377792.3	+	8	1355	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	POLR1E_ENST00000377798.4_Missense_Mutation_p.R294Q|POLR1E_ENST00000442009.2_Missense_Mutation_p.R224Q			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	356					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		GTAGTTAAGCGGAAAAGTAAG	0.383000													16	30					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94858951	94858951	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:94858951C>A	ENST00000358746.2	-	18	2010	c.1712G>T	c.(1711-1713)gGa>gTa	p.G571V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	571							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATAGTATAGTCCTCGCCTAAG	0.393000													70	120					3.31162e-33	5.42217e-33	1	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141262908	141262908	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:141262908C>A	ENST00000389328.4	-	16	2707	c.2693G>T	c.(2692-2694)tGc>tTc	p.C898F	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.C791F|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.C800F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	800					cell differentiation	endoplasmic reticulum|Golgi apparatus		p.C898F(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATTCTCCTGGCAGGAGAAATC	0.498000													49	61					4.64027e-19	6.52981e-19	1	1	0
TPD52L1	7164	broad.mit.edu	37	6	125541340	125541340	+	Splice_Site	SNP	G	G	T	rs111553148		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:125541340G>T	ENST00000534000.1	+	2	431		c.e2+1		TPD52L1_ENST00000524679.1_Splice_Site|TPD52L1_ENST00000368388.2_Splice_Site|TPD52L1_ENST00000534199.1_Splice_Site|TPD52L1_ENST00000304877.13_Splice_Site|TPD52L1_ENST00000392482.2_Splice_Site|TPD52L1_ENST00000528193.1_Splice_Site|TPD52L1_ENST00000368402.5_Splice_Site|TPD52L1_ENST00000527711.1_Splice_Site|TPD52L1_ENST00000532429.1_Splice_Site	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1						DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GTTAGTTCAGGTATGTTTAGT	0.353000													46	11					2.77807e-22	4.13271e-22	1	1	0
CHST13	166012	broad.mit.edu	37	3	126261142	126261142	+	Silent	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:126261142C>G	ENST00000319340.2	+	3	797	c.747C>G	c.(745-747)cgC>cgG	p.R249R		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	249					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		ACTGGGAGCGCGCGCACGCGC	0.741000													6	2					0	0	1	0	0
TRIAP1	51499	broad.mit.edu	37	12	120884161	120884161	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:120884161C>T	ENST00000546954.1	-	1	54	c.15G>A	c.(13-15)ggG>ggA	p.G5G	TRIAP1_ENST00000302432.3_5'UTR|AL021546.6_ENST00000551806.1_Intron	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1	5					anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCATGCCTCCCCCACACTGT	0.647000													60	20					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169504840	169504840	+	Splice_Site	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:169504840A>T	ENST00000256935.8	+	48	5073	c.4994_splice	c.e48+1	p.S1665_splice	DOCK2_ENST00000540750.1_Splice_Site_p.S726_splice|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.S1157_splice	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1665					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACCTCAGAGAGGTCAGTCCC	0.587000													13	34					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29240706	29240706	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:29240706T>A	ENST00000379558.4	+	10	1595	c.1244T>A	c.(1243-1245)cTg>cAg	p.L415Q	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	415							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCACTAGGCTGAGCGGCCCA	0.647000													16	18					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128994368	128994368	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:128994368G>A	ENST00000274487.4	+	15	2490	c.2345G>A	c.(2344-2346)tGc>tAc	p.C782Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	782	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTGGTGTATGCAATGGCAAT	0.358000													45	77					0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	142997069	142997069	+	Silent	SNP	G	G	T	rs114290247	byFrequency	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142997069G>T	ENST00000310447.5	+	7	1042	c.801G>T	c.(799-801)acG>acT	p.T267T	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	267					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					ACCGAGTCACGGACTCCTGCA	0.517000											OREG0018400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	47					2.35958e-20	3.4095e-20	1	1	0
TNR	7143	broad.mit.edu	37	1	175325478	175325478	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:175325478G>T	ENST00000367674.1	-	16	3803	c.3095C>A	c.(3094-3096)aCc>aAc	p.T1032N	TNR_ENST00000263525.2_Missense_Mutation_p.T1032N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1032	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTGCTGATGGTGCCACTGGT	0.502000													42	68					5.73435e-26	8.816e-26	1	1	0
KCNK9	51305	broad.mit.edu	37	8	140630668	140630668	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:140630668C>A	ENST00000520439.1	-	2	1021	c.958G>T	c.(958-960)Gcc>Tcc	p.A320S	KCNK9_ENST00000303015.1_Missense_Mutation_p.A320S			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	320						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.A320T(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GCAAGCTTGGCGCTGAAGGAG	0.582000													52	118					4.25531e-23	6.39731e-23	1	1	0
ARSI	340075	broad.mit.edu	37	5	149681798	149681798	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:149681798G>T	ENST00000328668.7	-	1	718	c.139C>A	c.(139-141)Ccc>Acc	p.P47T		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	47						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGATGTGGGGAGGCTGGGGC	0.672000													10	27					0.0581538	0.0590612	1	1	0
CHRNA6	8973	broad.mit.edu	37	8	42611013	42611013	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:42611013C>T	ENST00000276410.2	-	5	1684	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	CHRNA6_ENST00000534622.1_Missense_Mutation_p.M428I	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	443						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTGGCTCTTCATGTTTTCTG	0.483000													335	139					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377465	61377465	+	RNA	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:61377465T>A	ENST00000544088.1	+	0	100				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GAATTTTGCCTTGATGTGTTC	0.423000													5	9					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111342464	111342464	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:111342464C>T	ENST00000308208.5	+	11	1657	c.1415C>T	c.(1414-1416)gCa>gTa	p.A472V	CCDC63_ENST00000552694.1_Missense_Mutation_p.A393V|CCDC63_ENST00000545036.1_Missense_Mutation_p.A432V	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	472										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GTGGAAGGGGCAGAGGCTGAG	0.577000													50	19					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150053538	150053538	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:150053538A>G	ENST00000369130.3	+	8	1348	c.802A>G	c.(802-804)Aat>Gat	p.N268D	VPS45_ENST00000535106.1_Missense_Mutation_p.N199D|VPS45_ENST00000369128.5_Missense_Mutation_p.N163D	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	268					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCTGCTGAAAATGATGAATT	0.358000													50	56					0	0	1	0	0
OR7A17	26333	broad.mit.edu	37	19	14991696	14991696	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:14991696A>T	ENST00000327462.2	-	1	568	c.472T>A	c.(472-474)Tca>Aca	p.S158T		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AAGCTTTGTGACAAGGAATTC	0.493000													85	25					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927597	6927597	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:6927597G>A	ENST00000293805.5	+	3	467	c.375G>A	c.(373-375)caG>caA	p.Q125Q	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	125						nucleus	zinc ion binding			skin(1)	1						ACGTGGTCCAGGCATGCCACC	0.587000													55	49					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127222487	127222487	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:127222487C>A	ENST00000321407.2	-	2	2333	c.1909G>T	c.(1909-1911)Gat>Tat	p.D637Y		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	637						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTCAGGCTATCAGAGGATGAT	0.587000													51	100					7.41606e-26	1.13791e-25	1	1	0
GBP5	115362	broad.mit.edu	37	1	89732104	89732104	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:89732104T>A	ENST00000343435.5	-	7	1329	c.793A>T	c.(793-795)Aca>Tca	p.T265S	GBP5_ENST00000370459.3_Missense_Mutation_p.T265S|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	265						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAGAATTCTGTCACTTGTTGC	0.408000													80	13					0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45299161	45299161	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:45299161G>C	ENST00000354968.1	+	5	555	c.427G>C	c.(427-429)Gac>Cac	p.D143H	MYL4_ENST00000572316.1_Missense_Mutation_p.D143H|MYL4_ENST00000393450.1_Missense_Mutation_p.D143H	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	143	EF-hand 2.			D -> E (in Ref. 2; AAA59891).	cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						GCGTGTCTTTGACAAGGAGAG	0.577000													23	74					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48845659	48845659	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:48845659T>C	ENST00000314191.2	-	16	1753	c.1697A>G	c.(1696-1698)gAt>gGt	p.D566G	PRKDC_ENST00000338368.3_Missense_Mutation_p.D566G|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	566					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TACAAATTCATCATAAAGTAA	0.299000								Non-homologous end-joining					5	11					0	0	1	0	0
PSMD8	5714	broad.mit.edu	37	19	38873990	38873990	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:38873990A>T	ENST00000215071.4	+	7	1079	c.1013A>T	c.(1012-1014)cAg>cTg	p.Q338L	PSMD8_ENST00000602911.1_Missense_Mutation_p.Q275L	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	338					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGGCCAAACAGGTCATCGAG	0.587000													33	13					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56186825	56186825	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:56186825G>A	ENST00000340462.4	-	5	1043	c.763C>T	c.(763-765)Ccg>Tcg	p.P255S	ZBP1_ENST00000343535.4_Missense_Mutation_p.P278S|ZBP1_ENST00000371173.3_Missense_Mutation_p.P278S|ZBP1_ENST00000395822.3_Missense_Mutation_p.P203S			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	278						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCCTCGGACGGGACGCCGTGG	0.647000													22	5					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112179437	112179437	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:112179437G>T	ENST00000457016.1	+	16	8526	c.8146G>T	c.(8146-8148)Gtg>Ttg	p.V2716L	APC_ENST00000508376.2_Missense_Mutation_p.V2716L|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.V2716L			P25054	APC_HUMAN	adenomatous polyposis coli	2716	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATGCGTACCGTGGGTTTGGA	0.413000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			26	47					1.66031e-10	2.02926e-10	1	1	0
NTRK2	4915	broad.mit.edu	37	9	87317135	87317135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:87317135G>T	ENST00000304053.6	+	3	757	c.274G>T	c.(274-276)Gga>Tga	p.G92*	NTRK2_ENST00000359847.3_Nonsense_Mutation_p.G92*|NTRK2_ENST00000376213.1_Nonsense_Mutation_p.G92*|NTRK2_ENST00000395866.2_5'UTR|NTRK2_ENST00000277120.3_Nonsense_Mutation_p.G92*|NTRK2_ENST00000395882.1_Nonsense_Mutation_p.G92*|NTRK2_ENST00000376214.1_Nonsense_Mutation_p.G92*|NTRK2_ENST00000323115.4_Nonsense_Mutation_p.G92*|NTRK2_ENST00000376208.1_Nonsense_Mutation_p.G92*	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	92					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AGCTTATGTGGGACTGAGAAA	0.433000										TSP Lung(25;0.17)			29	17					3.1745e-13	4.08785e-13	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167262485	167262485	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:167262485C>T	ENST00000409855.1	-	25	4780	c.4654G>A	c.(4654-4656)Gca>Aca	p.A1552T		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1552					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTGGTTTTGCCATGAAAAGA	0.448000													4	167					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24178704	24178704	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:24178704G>C	ENST00000378454.3	-	9	1481	c.1180C>G	c.(1180-1182)Cac>Gac	p.H394D	DCDC2_ENST00000378450.3_Missense_Mutation_p.H147D	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	394					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TGCTCACTGTGATCCAGAATC	0.512000													24	82					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107752304	107752304	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:107752304C>A	ENST00000388781.3	-	4	363	c.280G>T	c.(280-282)Gta>Tta	p.V94L	LAMB4_ENST00000388780.3_Missense_Mutation_p.V94L|LAMB4_ENST00000414450.2_Missense_Mutation_p.V94L|LAMB4_ENST00000205386.4_Missense_Mutation_p.V94L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	94	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAAAACTTACAATGACATTC	0.363000													28	48					2.65835e-16	3.59199e-16	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58207784	58207784	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:58207784C>A	ENST00000377918.3	+	1	1130	c.1104C>A	c.(1102-1104)ggC>ggA	p.G368G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	368	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCCTCCCGGCACCGTCATCG	0.697000													25	97					2.65835e-16	3.59199e-16	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17202827	17202827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:17202827C>A	ENST00000261381.6	-	12	2689	c.2605G>T	c.(2605-2607)Gag>Tag	p.E869*		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	869					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGCTCTGCTCCATGTAGGCA	0.597000													35	82					2.40579e-17	3.29636e-17	1	1	0
THRAP3	9967	broad.mit.edu	37	1	36767168	36767168	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:36767168A>G	ENST00000354618.5	+	11	2741	c.2517A>G	c.(2515-2517)agA>agG	p.R839R	THRAP3_ENST00000469141.2_Silent_p.R839R	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	839					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCGAGCCAGAGGAAGAGGCT	0.453000			T	USP6	aneurysmal bone cysts								27	30					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934442	28934442	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:28934442C>A	ENST00000257192.4	+	15	2495	c.2283C>A	c.(2281-2283)atC>atA	p.I761I	RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.I120I|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	761					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGCAGACATCAGCCTAGGAA	0.488000													37	58					3.62531e-18	5.02015e-18	1	1	0
CHRNB3	1142	broad.mit.edu	37	8	42586825	42586825	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:42586825C>T	ENST00000289957.2	+	5	503	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	125					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.F125F(2)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACGGCCGCTTCGAAGGCTCCC	0.507000													18	73					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65858468	65858468	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:65858468G>T	ENST00000395325.3	+	12	1809	c.1652G>T	c.(1651-1653)aGt>aTt	p.S551I	DNAJC6_ENST00000263441.7_Missense_Mutation_p.S538I|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S608I	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	551	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTTCATCCTAGTGGACCTGCG	0.547000													31	5					5.91797e-21	8.63913e-21	1	1	0
IPO9	55705	broad.mit.edu	37	1	201823949	201823949	+	Splice_Site	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:201823949A>T	ENST00000361565.4	+	8	879		c.e8-1			NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9						protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TTAACTTCTTAGGCAGTGACA	0.418000													57	39					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105105727	105105727	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:105105727G>T	ENST00000436393.2	+	21	2991	c.2750G>T	c.(2749-2751)gGg>gTg	p.G917V	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	371					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTCATAGAGGGGCAGATAAT	0.408000										HNSCC(12;0.0054)			30	167					2.70662e-09	3.23965e-09	1	1	0
IL31RA	133396	broad.mit.edu	37	5	55209304	55209304	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:55209304G>T	ENST00000396834.1	+	15	2081		c.e15-1		IL31RA_ENST00000359040.5_Splice_Site|IL31RA_ENST00000354961.4_Splice_Site|IL31RA_ENST00000490985.1_Splice_Site|IL31RA_ENST00000447346.2_Splice_Site	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A						anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTTTTTCAAAGGTGTCTTTGA	0.373000													11	46					1.58986e-06	1.7866e-06	1	1	0
HOOK3	84376	broad.mit.edu	37	8	42868489	42868489	+	Silent	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:42868489A>G	ENST00000307602.4	+	21	2162	c.1962A>G	c.(1960-1962)acA>acG	p.T654T		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	654	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATGAGAAAACAAAGAGTCAGA	0.239000			T	RET	papillary thyroid								18	69					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932899	148932899	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:148932899G>T	ENST00000539543.1	+	0	155					NR_027355.1																						CTCAGTCTGCGGCCAAGACTC	0.617000													14	281					3.28513e-13	4.22335e-13	1	1	0
HIST1H3B	8358	broad.mit.edu	37	6	26032163	26032163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:26032163G>T	ENST00000244661.2	-	1	125	c.126C>A	c.(124-126)taC>taA	p.Y42*		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	42					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TGCCCGGGCGGTAACGGTGAG	0.642000													77	196					4.03997e-35	6.72754e-35	1	1	0
PAQR9	344838	broad.mit.edu	37	3	142681276	142681276	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:142681276C>A	ENST00000340634.3	-	1	902	c.903G>T	c.(901-903)ccG>ccT	p.P301P		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	301						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CGAAAAGACCCGGCTGGATGC	0.587000													69	13					9.4991e-31	1.53123e-30	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55496492	55496492	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:55496492G>A	ENST00000543010.1	+	7	2251	c.2108G>A	c.(2107-2109)gGt>gAt	p.G703D	NLRP2_ENST00000538819.1_Missense_Mutation_p.G679D|NLRP2_ENST00000263437.6_Missense_Mutation_p.G700D|NLRP2_ENST00000537859.1_Missense_Mutation_p.G681D|NLRP2_ENST00000339757.7_Missense_Mutation_p.G681D|NLRP2_ENST00000391721.4_Missense_Mutation_p.G679D|NLRP2_ENST00000448584.2_Missense_Mutation_p.G703D|NLRP2_ENST00000427260.2_Missense_Mutation_p.G680D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	703					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GATCTGATGGGTCTAGCAATC	0.448000													39	63					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59148140	59148140	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:59148140C>T	ENST00000472487.1	-	8	615	c.576G>A	c.(574-576)ggG>ggA	p.G192G	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	192					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATGCCTTTGTCCCTTTATCTT	0.353000													31	48					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389578	150389578	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:150389578G>C	ENST00000223293.5	+	3	298	c.204G>C	c.(202-204)tgG>tgC	p.W68C		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	68						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGAAGCTGGGGAAATAGAG	0.468000													21	37					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113462399	113462399	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:113462399G>A	ENST00000505019.1	-	25	5749	c.5624C>T	c.(5623-5625)aCt>aTt	p.T1875I	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACGGTATTGAGTTCTCAATAG	0.323000													19	7					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890723	229890723	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:229890723T>A	ENST00000392054.3	-	4	711	c.372A>T	c.(370-372)cgA>cgT	p.R124R	PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Silent_p.R126R|PID1_ENST00000392055.3_Silent_p.R93R|PID1_ENST00000409462.1_Silent_p.R44R	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	126	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AGACATCCTCTCGGGCTAGCG	0.537000													26	36					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62598687	62598687	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:62598687C>A	ENST00000512091.1	+	7	1357	c.610C>A	c.(610-612)Cac>Aac	p.H204N	LPHN3_ENST00000508693.1_Missense_Mutation_p.H272N|LPHN3_ENST00000506700.1_Missense_Mutation_p.H204N|LPHN3_ENST00000504896.1_Missense_Mutation_p.H204N|LPHN3_ENST00000509896.1_Missense_Mutation_p.H272N|LPHN3_ENST00000545650.1_Missense_Mutation_p.H204N|LPHN3_ENST00000508946.1_Missense_Mutation_p.H204N|LPHN3_ENST00000506746.1_Missense_Mutation_p.H272N|LPHN3_ENST00000506720.1_Missense_Mutation_p.H272N|LPHN3_ENST00000511324.1_Missense_Mutation_p.H272N|LPHN3_ENST00000514996.1_Missense_Mutation_p.H204N|LPHN3_ENST00000507164.1_Missense_Mutation_p.H272N|LPHN3_ENST00000514591.1_Missense_Mutation_p.H204N|LPHN3_ENST00000507625.1_Missense_Mutation_p.H272N|LPHN3_ENST00000514157.1_Missense_Mutation_p.H204N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	204	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAAGCTCCCTCACAGGGTGGA	0.453000													49	26					7.05377e-20	1.01268e-19	1	1	0
ZNF280D	54816	broad.mit.edu	37	15	56993398	56993398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:56993398C>A	ENST00000559237.1	-	4	858	c.175G>T	c.(175-177)Gga>Tga	p.G59*	ZNF280D_ENST00000558320.1_Nonsense_Mutation_p.G72*|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000267807.7_Nonsense_Mutation_p.G72*|ZNF280D_ENST00000559000.1_Nonsense_Mutation_p.G59*	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTCTTTAGTCCCCTTGAATAT	0.244000													12	2					0.000151284	0.000162745	1	1	0
EXOSC5	56915	broad.mit.edu	37	19	41895804	41895804	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:41895804C>T	ENST00000221233.4	-	4	541	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	EXOSC5_ENST00000596905.1_Missense_Mutation_p.A93T|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	131					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGACAACAGGCCAGGAGCTGA	0.542000													17	72					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117407144	117407144	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:117407144A>T	ENST00000160373.3	-	9	2956	c.2865T>A	c.(2863-2865)acT>acA	p.T955T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	955										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGCAGTCATCAGTGGCAACAT	0.468000													28	13					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192007	41192007	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:41192007A>T	ENST00000220509.5	+	4	1330	c.991A>T	c.(991-993)Acc>Tcc	p.T331S	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	331					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CATCGTCTTGACCCAGTTCCA	0.642000													126	25					0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726230	168726230	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:168726230C>A	ENST00000305861.1	+	2	1032	c.681C>A	c.(679-681)taC>taA	p.Y227*	B3GALT1_ENST00000392690.2_Nonsense_Mutation_p.Y227*|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	227					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGGATTTGTACCCAGACAGTA	0.493000													37	49					1.60099e-16	2.1689e-16	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25334963	25334963	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:25334963G>T	ENST00000546682.1	+	0	789				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CAGAAGTCCCGGGACACATGG	0.507000													4	13					0.00024832	0.000264943	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134071829	134071829	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:134071829C>A	ENST00000264360.4	+	1	1360	c.534C>A	c.(532-534)aaC>aaA	p.N178K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	178	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGATGGCAACCGATTCGCTG	0.647000													22	51					6.07407e-21	8.85873e-21	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106815241	106815241	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:106815241A>T	ENST00000407775.2	+	8	3181	c.2931A>T	c.(2929-2931)ggA>ggT	p.G977G	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.G845G|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.G845G|ZFPM2_ENST00000378472.4_Silent_p.G708G|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	977					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGCAAAAGGAGCCGACCAGC	0.403000													38	12					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													8	16					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319299	123319299	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:123319299G>T	ENST00000275162.4	+	2	1712	c.377G>T	c.(376-378)tGg>tTg	p.W126L	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	126	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCTGCCAATTGGGATCAGAGC	0.473000													31	30					1.68575e-08	1.98578e-08	1	1	0
KCNJ5	3762	broad.mit.edu	37	11	128786460	128786460	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:128786460A>T	ENST00000529694.1	+	3	1470	c.1094A>T	c.(1093-1095)aAg>aTg	p.K365M	KCNJ5_ENST00000338350.4_Missense_Mutation_p.K365M|KCNJ5_ENST00000533599.1_Missense_Mutation_p.K365M	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	365					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGCTGTGCCAAGGAGCTGGCA	0.587000													30	187					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135443672	135443672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:135443672G>A	ENST00000394143.1	+	12	7494	c.7203G>A	c.(7201-7203)tgG>tgA	p.W2401*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.W2401*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.W2199*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.W2196*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.W2196*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2401					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTATAAGTGGCTATTAACCA	0.418000													23	15					0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20876572	20876572	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:20876572G>T	ENST00000556948.1	-	0	28																											CTCCAAGACAGGTCTAGTTAT	0.308000													7	47					5.18039e-06	5.75517e-06	1	1	0
TEX14	56155	broad.mit.edu	37	17	56693620	56693620	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:56693620G>A	ENST00000389934.3	-	7	800	c.683C>T	c.(682-684)cCg>cTg	p.P228L	TEX14_ENST00000349033.5_Missense_Mutation_p.P228L|TEX14_ENST00000240361.8_Missense_Mutation_p.P234L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	234	Protein kinase.					cytoplasm	ATP binding|protein kinase activity	p.P228L(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAATGACCGGAAGAGATCC	0.493000													11	47					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869059	150869059	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:150869059G>T	ENST00000370353.3	+	4	640	c.250G>T	c.(250-252)Gta>Tta	p.V84L	PRRG3_ENST00000370354.1_3'UTR|PRRG3_ENST00000538575.1_Missense_Mutation_p.V84L			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	84						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTATGTGGTGGTACCCCTTCT	0.542000													87	44					6.15735e-50	1.07222e-49	1	1	0
ADCY5	111	broad.mit.edu	37	3	123038556	123038556	+	Missense_Mutation	SNP	G	G	C	rs145736605		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:123038556G>C	ENST00000462833.1	-	10	3433	c.2221C>G	c.(2221-2223)Ctc>Gtc	p.L741V	ADCY5_ENST00000309879.5_Missense_Mutation_p.L391V|ADCY5_ENST00000491190.1_Missense_Mutation_p.L374V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	741					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGGTCAGGAGGAACTTGCGG	0.587000													21	10					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73064054	73064054	+	RNA	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:73064054G>T	ENST00000429829.1	-	0	8534					NR_001564.2																						GCAAATGGAGGGTGAGAAGGT	0.408000													55	47					6.4308e-24	9.73344e-24	1	1	0
PPFIA2	8499	broad.mit.edu	37	12	82147967	82147967	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:82147967C>A	ENST00000550584.2	-	2	329	c.34G>T	c.(34-36)Gac>Tac	p.D12Y	PPFIA2_ENST00000548586.1_Missense_Mutation_p.D12Y|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D12Y|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D12Y|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D12Y|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D12Y	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	271										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTGGGGTGTCCTCATTAATC	0.438000													7	1					0.00307968	0.00320911	1	1	0
TACC2	10579	broad.mit.edu	37	10	123846320	123846320	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:123846320G>T	ENST00000369005.1	+	4	4645	c.4305G>T	c.(4303-4305)agG>agT	p.R1435S	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R1435S|TACC2_ENST00000515273.1_Missense_Mutation_p.R1435S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R1435S|TACC2_ENST00000453444.2_Missense_Mutation_p.R1435S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1435						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGCTGGGAGGAGTGCAGTGG	0.597000													17	21					4.7546e-09	5.66491e-09	1	1	0
HEPACAM	220296	broad.mit.edu	37	11	124805900	124805900	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:124805900C>A	ENST00000298251.4	-	1	408	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	1					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TTTCTCTCTTCATTTTGGGTG	0.552000													51	8					7.05377e-20	1.01268e-19	1	1	0
ZNF577	84765	broad.mit.edu	37	19	52376734	52376734	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:52376734T>C	ENST00000420592.1	-	6	1665	c.332A>G	c.(331-333)aAa>aGa	p.K111R	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.K170R|ZNF577_ENST00000451628.2_Missense_Mutation_p.K111R			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAGCTGTGCTTTCCTGGAGAA	0.463000													86	22					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27256941	27256941	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:27256941C>A	ENST00000361042.4	+	9	1397	c.1172C>A	c.(1171-1173)gCc>gAc	p.A391D	WASF3_ENST00000335327.5_Missense_Mutation_p.A394D			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	394					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTGGTCACAGCCCCGCCACCC	0.706000													26	73					3.17567e-06	3.54061e-06	1	1	0
FGF14	2259	broad.mit.edu	37	13	102568883	102568883	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:102568883C>A	ENST00000376143.4	-	1	112	c.113G>T	c.(112-114)gGg>gTg	p.G38V	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	38					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTTGCAGAGCCCGCGGTTCTT	0.657000													25	27					6.32553e-13	8.1054e-13	1	1	0
UNC93A	54346	broad.mit.edu	37	6	167728906	167728906	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:167728906A>T	ENST00000230256.3	+	8	1515	c.1340A>T	c.(1339-1341)cAg>cTg	p.Q447L	UNC93A_ENST00000366829.2_Missense_Mutation_p.Q405L	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	447						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAGGTCAACCAGGCAGAGGAT	0.537000													11	288					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221480	161221480	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:161221480C>G	ENST00000327928.4	+	4	1184	c.1184C>G	c.(1183-1185)aCg>aGg	p.T395R		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	395	C1q.					collagen		p.T395M(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TACCATATTACGGTGAGGGGG	0.448000													24	4					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102027881	102027881	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:102027881G>A	ENST00000510508.4	+	1	194	c.48G>A	c.(46-48)ggG>ggA	p.G16G	DIO3_ENST00000359323.3_5'UTR			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	0					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				AGGGCGAGGGGTCCCAGGGGG	0.657000													13	19					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959746	45959746	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:45959746C>A	ENST00000400375.1	-	1	332	c.288G>T	c.(286-288)caG>caT	p.Q96H	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	96	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						agcaggcctgctggcaggggg	0.657000													87	149					5.10254e-61	9.08798e-61	1	1	0
OR10H4	126541	broad.mit.edu	37	19	16060464	16060464	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:16060464T>A	ENST00000322107.1	+	1	647	c.647T>A	c.(646-648)aTc>aAc	p.I216N		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TTATTCCTCATCATCCTCTCC	0.493000													66	136					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65714106	65714106	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:65714106C>A	ENST00000253247.4	+	1	158	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	15						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTCGGTAGTCCTGAGCGCCGG	0.572000											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	81					9.04412e-07	1.02073e-06	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22015965	22015965	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:22015965T>A	ENST00000261200.4	-	18	2260	c.2261A>T	c.(2260-2262)tAt>tTt	p.Y754F	ABCC9_ENST00000261201.4_Missense_Mutation_p.Y754F|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.Y718F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	754	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGAGCTGCATATGCCACAGA	0.313000													26	7					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30046565	30046565	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:30046565G>T	ENST00000331968.5	-	18	2847	c.2618C>A	c.(2617-2619)gCa>gAa	p.A873E	PRKD1_ENST00000415220.2_Missense_Mutation_p.A881E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	873					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTGCTCGCCTGCATACTTCTC	0.522000													43	67					2.46787e-29	3.9175e-29	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37508317	37508317	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:37508317C>G	ENST00000374660.1	+	40	3965	c.3866C>G	c.(3865-3867)gCa>gGa	p.A1289G	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A1170G|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A1170G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1226						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTCCACATTGCAGGAGATGCT	0.393000													19	75					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725757	45725757	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:45725757C>T	ENST00000297323.7	+	13	2292	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	757					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATCCTGCTCTCCGGGCTCACC	0.577000													51	76					0	0	1	0	0
TRAV27	28655	broad.mit.edu	37	14	22616440	22616440	+	RNA	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:22616440C>T	ENST00000390457.2	+	0	278																											TGGGGAAGGTCCTGTCCTCCT	0.468000													30	22					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10650303	10650303	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:10650303G>T	ENST00000547195.1	-	5	874	c.374C>A	c.(373-375)cCg>cAg	p.P125Q	MRVI1_ENST00000541483.1_Missense_Mutation_p.P216Q|MRVI1_ENST00000527509.2_Missense_Mutation_p.P125Q|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.P207Q|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.P207Q|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.P216Q|MRVI1_ENST00000531107.1_Missense_Mutation_p.P207Q|MRVI1_ENST00000552103.1_Missense_Mutation_p.P125Q	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	207					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTCACCTGGCGGGGTGGGGAC	0.632000													4	5					0.00909568	0.00933473	1	1	0
TNR	7143	broad.mit.edu	37	1	175328815	175328815	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:175328815G>T	ENST00000367674.1	-	15	3615	c.2907C>A	c.(2905-2907)gcC>gcA	p.A969A	TNR_ENST00000263525.2_Silent_p.A969A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	969	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTGCAGCAGGGCTTCTGTTG	0.498000													12	40					4.7546e-09	5.66491e-09	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169125406	169125406	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:169125406G>T	ENST00000256935.8	+	11	1088	c.1008G>T	c.(1006-1008)ggG>ggT	p.G336G		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	336					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCAAGGGGAAAGCAGAGA	0.403000													10	27					7.48243e-07	8.47538e-07	1	1	0
ASAP2	8853	broad.mit.edu	37	2	9463311	9463311	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:9463311A>G	ENST00000281419.3	+	6	872	c.532A>G	c.(532-534)Ata>Gta	p.I178V	ASAP2_ENST00000315273.4_Missense_Mutation_p.I178V	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	178					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCGGACTGAAATAAGCGGAGC	0.502000													153	182					0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170558031	170558031	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:170558031G>T	ENST00000359744.3	+	4	938	c.550G>T	c.(550-552)Gtc>Ttc	p.V184F	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	184							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						TGGAAATGATGTCTGTCCAGT	0.353000													29	107					3.73988e-18	5.16507e-18	1	1	0
LOC644669	644669	broad.mit.edu	37	18	15323299	15323299	+	RNA	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:15323299T>C	ENST00000455308.2	-	0	549					NR_027417.1																						TTTTTGTCAGTAAAAATTCCA	0.303000													6	11					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142511	5142511	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:5142511C>A	ENST00000498233.1	-	0	887																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGAGGCAAGCATCAAAATAT	0.473000													16	23					0.000308642	0.000328853	1	1	0
TXNIP	10628	broad.mit.edu	37	1	145440636	145440636	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:145440636A>G	ENST00000369317.4	+	6	1170	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	279					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCTAGATCTATGTTAGCGTT	0.493000													36	132					0	0	1	0	0
PXDC1	221749	broad.mit.edu	37	6	3738375	3738375	+	Silent	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:3738375A>T	ENST00000380283.4	-	2	758	c.264T>A	c.(262-264)gtT>gtA	p.V88V	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN	PX domain containing 1	88	PX.				cell communication		phosphatidylinositol binding										CCTTTATGGCAACCAGTCCTA	0.507000													88	122					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111400	142111400	+	RNA	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142111400G>C	ENST00000390378.1	-	0	335																											GTGCCAAGCTGCTGGCACAGA	0.517000													32	92					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32502598	32502598	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:32502598C>A	ENST00000286827.3	-	26	4449	c.3978G>T	c.(3976-3978)tgG>tgT	p.W1326C	TIAM1_ENST00000541036.1_Missense_Mutation_p.W1266C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1326	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGAAGGGGTCCCAGTCCTCAT	0.527000													65	240					5.89852e-23	8.85912e-23	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61511227	61511227	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:61511227C>A	ENST00000266070.4	-	16	6406	c.6081G>T	c.(6079-6081)ctG>ctT	p.L2027L	DIDO1_ENST00000395343.1_Silent_p.L2027L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2027	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGAAGCTCCAGCAGGGGCC	0.701000													78	17					1.63007e-36	2.74077e-36	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130399894	130399894	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:130399894C>A	ENST00000356763.3	-	18	4281	c.3724G>T	c.(3724-3726)Gtc>Ttc	p.V1242F	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1242					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ATACCATGGACGCTATGAGGA	0.363000													35	9					1.69901e-12	2.15061e-12	1	1	0
MOB3C	148932	broad.mit.edu	37	1	47078618	47078618	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:47078618C>G	ENST00000371940.1	-	1	3519	c.445G>C	c.(445-447)Gaa>Caa	p.E149Q	MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.E178Q|MOB3C_ENST00000319928.3_Missense_Mutation_p.E126Q|MKNK1_ENST00000545730.1_Intron			Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	126							metal ion binding										ATGAGGCCTTCGATCCAGTCC	0.632000													46	41					0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51686155	51686155	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:51686155C>T	ENST00000256429.3	-	6	1456	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	410					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TCTTAGGCTTCATCTCCACTG	0.453000													38	45					0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95838224	95838224	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:95838224G>C	ENST00000375472.3	+	2	283	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	SUSD3_ENST00000375469.1_Missense_Mutation_p.E70Q	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	83	Sushi.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GAGCATCGCTGAGTGGTCTTC	0.637000													11	62					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114168808	114168808	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:114168808G>T	ENST00000535401.1	+	4	554	c.290G>T	c.(289-291)tGg>tTg	p.W97L	NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.W97L			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	97					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTGGAGAAGTGGCTGAAGAAA	0.512000													105	16					3.44186e-60	6.12322e-60	1	1	0
OR2A25	392138	broad.mit.edu	37	7	143771507	143771507	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:143771507G>A	ENST00000408898.2	+	1	233	c.195G>A	c.(193-195)ctG>ctA	p.L65L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTCACACCTGGCGGTCGTCG	0.577000													45	53					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48697078	48697078	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:48697078T>A	ENST00000354983.4	+	32	6086	c.5714T>A	c.(5713-5715)aTc>aAc	p.I1905N	CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.I1939N|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515411.1_Missense_Mutation_p.I1921N|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000515765.1_Missense_Mutation_p.I1928N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.I1905N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I1928N|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000513689.2_Missense_Mutation_p.I1894N|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.I1939N	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1939					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCTGCTGATCCAGGGCTCC	0.677000													7	26					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731571	21731571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:21731571G>T	ENST00000578713.1	+	2	650	c.646G>T	c.(646-648)Gag>Tag	p.E216*	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CATCCAGAAAGAGTCGACCCT	0.537000													10	27					3.07112e-06	3.42649e-06	1	1	0
NXPH2	11249	broad.mit.edu	37	2	139428683	139428683	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:139428683G>T	ENST00000272641.3	-	2	710	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	202	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		AAGTTGCACAGGGCGGTCTTT	0.463000													8	38					0.000274275	0.000292435	1	1	0
MBD5	55777	broad.mit.edu	37	2	149227685	149227685	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:149227685G>A	ENST00000407073.1	+	9	3170	c.2173G>A	c.(2173-2175)Gcc>Acc	p.A725T	MBD5_ENST00000404807.1_Missense_Mutation_p.A725T	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	725						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGGTTGTGGGGCCTCAAATAC	0.458000													32	24					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21348945	21348945	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:21348945G>T	ENST00000215739.8	+	15	2073	c.1714G>T	c.(1714-1716)Gcc>Tcc	p.A572S	LZTR1_ENST00000389355.3_Missense_Mutation_p.A553S|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	572					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTACATCGAGGCCTCCGTGGA	0.612000													32	40					9.04072e-19	1.26311e-18	1	1	0
SSFA2	6744	broad.mit.edu	37	2	182766522	182766522	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:182766522A>T	ENST00000431877.2	+	8	921	c.742A>T	c.(742-744)Act>Tct	p.T248S	SSFA2_ENST00000409001.1_Missense_Mutation_p.T248S|SSFA2_ENST00000320370.7_Missense_Mutation_p.T248S|SSFA2_ENST00000428267.2_Missense_Mutation_p.T95S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	248						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AGTGCTTACTACTGTGGCCAA	0.358000													40	11					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530540	80530540	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:80530540G>T	ENST00000295057.3	-	2	1061	c.405C>A	c.(403-405)ccC>ccA	p.P135P	LRRTM1_ENST00000409148.1_Silent_p.P135P|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	135						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGTTGGGCATGGGCCGGAAGG	0.627000										HNSCC(69;0.2)			50	140					6.81593e-30	1.08638e-29	1	1	0
ZNF594	84622	broad.mit.edu	37	17	5086082	5086082	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:5086082G>A	ENST00000399604.4	-	1	1610	c.1470C>T	c.(1468-1470)tgC>tgT	p.C490C	ZNF594_ENST00000575779.1_Silent_p.C490C			Q96JF6	ZN594_HUMAN	zinc finger protein 594	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CACATTCAGTGCACTGATAGG	0.458000													43	28					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85689989	85689989	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:85689989G>T	ENST00000253458.7	+	7	1206	c.1030G>T	c.(1030-1032)Gag>Tag	p.E344*	GSE1_ENST00000405402.2_Nonsense_Mutation_p.E240*|GSE1_ENST00000393243.1_Nonsense_Mutation_p.E271*	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		gagggagcgcgagcgcgagcg	0.657000													10	4					7.48243e-07	8.47538e-07	1	1	0
FAM188A	80013	broad.mit.edu	37	10	15821010	15821010	+	Missense_Mutation	SNP	C	C	A	rs142355387		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:15821010C>A	ENST00000378036.1	-	6	1610	c.434G>T	c.(433-435)cGc>cTc	p.R145L	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.R440L			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	440					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAAGGAGAGCGATCTGTGGT	0.393000													6	39					0.0215528	0.0219892	1	1	0
GPR112	139378	broad.mit.edu	37	X	135431880	135431880	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:135431880C>T	ENST00000394143.1	+	6	6306	c.6015C>T	c.(6013-6015)ccC>ccT	p.P2005P	GPR112_ENST00000370652.1_Silent_p.P2005P|GPR112_ENST00000287534.4_Silent_p.P1942P|GPR112_ENST00000412101.1_Silent_p.P1800P|GPR112_ENST00000394141.1_Silent_p.P1800P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2005					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAAAGTCACCCATTCTGACAT	0.463000													41	14					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86302202	86302202	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:86302202T>A	ENST00000263857.6	-	12	1940	c.1562A>T	c.(1561-1563)cAg>cTg	p.Q521L	POLR1A_ENST00000409681.1_Missense_Mutation_p.Q521L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	521					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTCAGAAGCTGCTTGGCCAC	0.617000													6	29					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835237	172835237	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:172835237C>A	ENST00000351008.3	-	2	468	c.285G>T	c.(283-285)aaG>aaT	p.K95N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	95					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.K95N(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTGCCTGTTTCTTTCTAGTTG	0.388000													70	98					1.77791e-30	2.85416e-30	1	1	0
NMUR2	56923	broad.mit.edu	37	5	151784150	151784150	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:151784150C>A	ENST00000255262.3	-	1	690	c.525G>T	c.(523-525)gtG>gtT	p.V175V	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	175					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGGAGAAGAGCACGGAGAAGC	0.632000													40	52					3.61848e-18	5.01959e-18	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23521163	23521163	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:23521163C>A	ENST00000296682.3	+	6	565	c.383C>A	c.(382-384)tCt>tAt	p.S128Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	128					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTAATGAATCTAGTTTGAAA	0.408000										HNSCC(3;0.000094)			14	84					0.00316338	0.00329194	1	1	0
WDFY1	57590	broad.mit.edu	37	2	224765921	224765921	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:224765921G>A	ENST00000233055.4	-	5	566	c.464C>T	c.(463-465)aCg>aTg	p.T155M		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	155						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AGCCCAGGACGTGAAGAAGTG	0.572000													19	31					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76855944	76855944	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:76855944G>C	ENST00000373344.5	-	23	5870	c.5656C>G	c.(5656-5658)Cct>Gct	p.P1886A	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.P1848A	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1886					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAACACCAAGGATGAGTCCAT	0.368000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						51	160					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46976272	46976272	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:46976272C>A	ENST00000264318.3	-	6	1680	c.698G>T	c.(697-699)aGt>aTt	p.S233I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	233					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGGTTTCACTTGATACGGT	0.378000													18	70					0.00152264	0.00160375	1	1	0
CENPK	64105	broad.mit.edu	37	5	64824279	64824279	+	Splice_Site	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:64824279C>T	ENST00000396679.1	-	9	811	c.597_splice	c.e9+1	p.K199_splice	CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000514814.1_Splice_Site_p.K199_splice|CENPK_ENST00000242872.3_Splice_Site_p.K199_splice|CENPK_ENST00000510693.1_Splice_Site_p.K136_splice|CENPK_ENST00000508421.1_Splice_Site_p.K169_splice	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	199					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TAAAACTTACCTTTTTCTTTT	0.299000													10	13					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102895036	102895036	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:102895036C>A	ENST00000230792.2	-	3	436	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L	NUDT12_ENST00000507423.1_Missense_Mutation_p.V96L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	114						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CATTCTTCCACTTCATTCGTT	0.398000													21	30					2.4624e-09	2.95185e-09	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54783460	54783460	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:54783460G>C	ENST00000218436.6	-	8	3076	c.3047C>G	c.(3046-3048)tCc>tGc	p.S1016C		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1016					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CACGAACTTGGATTCCACCAT	0.527000													15	11					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492007	107492007	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:107492007A>T	ENST00000415149.2	+	11	1766	c.1439A>T	c.(1438-1440)gAa>gTa	p.E480V	BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.E480V|BBX_ENST00000402543.1_Missense_Mutation_p.E480V|BBX_ENST00000325805.8_Missense_Mutation_p.E480V	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	480	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAGTCTTCGGAATCTGACATT	0.433000													30	93					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641455	141641455	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:141641455G>T	ENST00000389484.3	-	25	5071	c.4100C>A	c.(4099-4101)tCc>tAc	p.S1367Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1367					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTCTTAGGGAGCCATCTAG	0.463000										TSP Lung(27;0.18)			42	149					1.03325e-14	1.36197e-14	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139153528	139153528	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:139153528A>T	ENST00000395297.1	-	17	3873	c.3703T>A	c.(3703-3705)Tat>Aat	p.Y1235N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1235										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGAGGTAATACCGGAACCGG	0.522000										HNSCC(54;0.14)			35	147					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103329	55103329	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:55103329G>A	ENST00000491143.2	+	1	413	c.381G>A	c.(379-381)ctG>ctA	p.L127L		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	127					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCATCCCGCTGCACCACGCCA	0.697000													16	21					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215987077	215987077	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:215987077C>G	ENST00000366943.2	-	49	10126	c.9740G>C	c.(9739-9741)gGt>gCt	p.G3247A	USH2A_ENST00000307340.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3247					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAACCCTCACCTGGTAGAAT	0.428000										HNSCC(13;0.011)			32	111					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039177	5039177	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:5039177C>T	ENST00000574788.1	+	17	2848	c.618C>T	c.(616-618)ttC>ttT	p.F206F	USP6_ENST00000250066.6_Silent_p.F206F|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Silent_p.F206F			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	206	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGACGCATTCTGGGCACTGG	0.622000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								46	82					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33561137	33561137	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:33561137T>A	ENST00000504830.1	-	20	4455	c.4120A>T	c.(4120-4122)Agc>Tgc	p.S1374C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1289C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1374	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTTACCTTGCTCCAGTTTCCC	0.502000										HNSCC(64;0.19)			184	94					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207459539	207459539	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:207459539G>A	ENST00000264377.3	+	23	2485	c.2157G>A	c.(2155-2157)atG>atA	p.M719I	ADAM23_ENST00000374415.3_Missense_Mutation_p.M719I|ADAM23_ENST00000374416.1_Missense_Mutation_p.M719I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	719					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CGTCTATGATGTGTTTAGATC	0.458000													46	12					0	0	1	0	0
MAFB	9935	broad.mit.edu	37	20	39316633	39316633	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:39316633C>A	ENST00000373313.2	-	1	1247	c.858G>T	c.(856-858)cgG>cgT	p.R286R	MAFB_ENST00000396967.1_Silent_p.R286R	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	286	Leucine-zipper.				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CGCGGGCCAGCCGGGACACCT	0.612000			T	IGH@	MM								87	32					2.98122e-55	5.26772e-55	1	1	0
C2orf40	84417	broad.mit.edu	37	2	106694350	106694350	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:106694350C>A	ENST00000409944.1	+	5	538	c.307C>A	c.(307-309)Cat>Aat	p.H103N	C2orf40_ENST00000238044.3_Missense_Mutation_p.H139N			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	139						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CGGCTTTAGGCATGGAGCCAG	0.463000													6	63					8.12818e-05	8.78631e-05	1	1	0
LOC101929950	101929950	broad.mit.edu	37	17	36359028	36359028	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:36359028C>A	ENST00000312412.4	-	6	662	c.663G>T	c.(661-663)cgG>cgT	p.R221R	RP11-1407O15.2_ENST00000544906.1_Silent_p.R66R																kidney(1)|lung(3)	4						GGTATGGTTTCCGGTCAATTA	0.343000													51	186					6.7651e-33	1.10419e-32	1	1	0
FAT2	2196	broad.mit.edu	37	5	150925166	150925166	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:150925166T>G	ENST00000261800.5	-	9	5534	c.5522A>C	c.(5521-5523)tAt>tCt	p.Y1841S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1841	Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCATGGACATAGACACAGAA	0.448000													28	51					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147608	100147608	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:100147608A>T	ENST00000231461.5	-	5	1333	c.1023T>A	c.(1021-1023)aaT>aaA	p.N341K		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	341					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TATGTAGCACATTTAATGTTT	0.323000													9	15					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40255736	40255736	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:40255736T>A	ENST00000251642.3	-	12	1866	c.1644A>T	c.(1642-1644)ccA>ccT	p.P548P		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	548					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGTGCTCCACTGGGAACTGCT	0.652000													31	113					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662513	113662513	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:113662513G>C	ENST00000297405.5	-	19	3314	c.3070C>G	c.(3070-3072)Cat>Gat	p.H1024D	CSMD3_ENST00000343508.3_Missense_Mutation_p.H984D|CSMD3_ENST00000455883.2_Missense_Mutation_p.H920D|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1024D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1024	Sushi 5.					integral to membrane|plasma membrane		p.H984N(1)|p.H1024N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGAAATCATGACCATAGCGA	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			120	64					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410329	159410329	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:159410329C>G	ENST00000423932.3	+	1	818	c.781C>G	c.(781-783)Cac>Gac	p.H261D	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	261					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GGTCATTGTCCACTACAGCTG	0.502000													24	163					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48787397	48787397	+	Missense_Mutation	SNP	T	T	A	rs145464311		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:48787397T>A	ENST00000316623.5	-	22	3055	c.2600A>T	c.(2599-2601)aAt>aTt	p.N867I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	867	TB 4.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTGGCTCCATTGATGTTGAT	0.493000													27	33					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54666261	54666261	+	Splice_Site	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:54666261G>A	ENST00000605337.1	+	1	393	c.346_splice	c.e1+1	p.E115_splice	MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000336230.6_Splice_Site_p.R85_splice|MRPL37_ENST00000360840.5_Splice_Site_p.E115_splice			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	115					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GCCTTCTCGAGGGTGAGGCCC	0.602000													30	64					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49578864	49578864	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:49578864C>G	ENST00000301071.7	-	4	1629	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q	TUBA1A_ENST00000550767.1_Missense_Mutation_p.E394Q|TUBA1A_ENST00000295766.5_Missense_Mutation_p.E429Q	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	429					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TAATCCTTCTCAAGGGCAGCC	0.493000													77	120					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25621449	25621449	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:25621449G>A	ENST00000262394.2	+	1	344	c.28G>A	c.(28-30)Gag>Aag	p.E10K	WSB1_ENST00000583193.1_Missense_Mutation_p.E10K|WSB1_ENST00000348811.2_Missense_Mutation_p.E10K|WSB1_ENST00000579733.1_Missense_Mutation_p.E10K|WSB1_ENST00000427287.2_Missense_Mutation_p.E10K|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000581185.1_Missense_Mutation_p.E10K	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	10					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAGGGTCAACGAGAAAGAGAT	0.617000													38	106					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107956606	107956606	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:107956606G>T	ENST00000317357.5	+	6	3217	c.2558G>T	c.(2557-2559)gGg>gTg	p.G853V	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	853							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCAGCGCCGGGCCTGAGGAC	0.602000													66	19					5.80444e-35	9.64524e-35	1	1	0
POU5F1B	5462	broad.mit.edu	37	8	128429082	128429082	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:128429082A>G	ENST00000465342.2	+	2	2128	c.971A>G	c.(970-972)tAt>tGt	p.Y324C	CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.Y324C|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						ACCCCAGGCTATGGGAGCCCT	0.582000													13	18					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773448	141773448	+	Silent	SNP	T	T	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:141773448T>G	ENST00000389484.3	-	13	2978	c.2007A>C	c.(2005-2007)atA>atC	p.I669I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	669					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGCTGTCATCTATTTCATCTT	0.413000										TSP Lung(27;0.18)			42	121					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620396	7620396	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:7620396G>T	ENST00000486284.1	+	8	2077	c.1803G>T	c.(1801-1803)ggG>ggT	p.G601G	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.G601G|GRM7_ENST00000402647.2_Silent_p.G601G|GRM7_ENST00000403881.1_Silent_p.G601G|GRM7_ENST00000357716.4_Silent_p.G601G	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	601					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.G601G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAATGTTGGGGATCATTGCCA	0.532000													118	25					1.18831e-53	2.08556e-53	1	1	0
MOB1A	55233	broad.mit.edu	37	2	74399726	74399726	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:74399726C>A	ENST00000396049.3	-	2	361	c.168G>T	c.(166-168)tgG>tgT	p.W56C	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.W56C	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN	MOB kinase activator 1A	56					hippo signaling cascade		metal ion binding|protein binding										TCACAGCAATCCATTCATTGA	0.353000													57	44					7.47603e-22	1.10688e-21	1	1	0
TBC1D8	11138	broad.mit.edu	37	2	101648765	101648765	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:101648765C>A	ENST00000409318.1	-	11	2031	c.1901G>T	c.(1900-1902)cGg>cTg	p.R634L	TBC1D8_ENST00000376840.4_Missense_Mutation_p.R619L	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	619	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GGGCAGCATCCGCTCACACAC	0.567000													17	60					0.00074312	0.00078802	1	1	0
TBX2	6909	broad.mit.edu	37	17	59485728	59485728	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:59485728T>A	ENST00000240328.3	+	7	2281	c.2000T>A	c.(1999-2001)gTa>gAa	p.V667E	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	667					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CTCCGCAAAGTAGGGGCCCCA	0.682000													8	15					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125864825	125864825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:125864825C>A	ENST00000392693.3	-	13	2612	c.2485G>T	c.(2485-2487)Gga>Tga	p.G829*	CDON_ENST00000531738.1_Nonsense_Mutation_p.G206*|CDON_ENST00000263577.7_Nonsense_Mutation_p.G829*	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	829	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATGTGAGGTCCAGTTATTGGA	0.468000													10	43					3.07112e-06	3.42649e-06	1	1	0
FRG1	2483	broad.mit.edu	37	4	190883067	190883067	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:190883067G>T	ENST00000226798.4	+	8	942	c.720G>T	c.(718-720)ttG>ttT	p.L240F		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	240					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ATGGATTTTTGCATGAGACGC	0.323000													155	57					5.63857e-76	1.01585e-75	1	1	0
FIZ1	84922	broad.mit.edu	37	19	56103876	56103876	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:56103876C>A	ENST00000221665.3	-	3	1520	c.1431G>T	c.(1429-1431)aaG>aaT	p.K477N		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGATGAAGCCCTTGCCGCAGA	0.672000													8	2					0.00307968	0.00320911	1	1	0
UBXN7	26043	broad.mit.edu	37	3	196134258	196134258	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:196134258C>T	ENST00000296328.4	-	2	154	c.80G>A	c.(79-81)aGt>aAt	p.S27N	UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	27							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TACACTTTCACTTGCACCTGA	0.363000													20	86					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528526	20528526	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:20528526G>T	ENST00000315683.1	+	1	323	c.323G>T	c.(322-324)gGg>gTg	p.G108V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CACTTCTTTGGGGGTGCTGAG	0.478000													40	71					5.43694e-19	7.64401e-19	1	1	0
DENND1B	163486	broad.mit.edu	37	1	197704751	197704751	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:197704751C>G	ENST00000235453.4	-	3	294	c.17G>C	c.(16-18)cGg>cCg	p.R6P	DENND1B_ENST00000400967.2_Missense_Mutation_p.R6P|DENND1B_ENST00000367396.3_Intron			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTTCTCCTCCCGTGGAGCTGC	0.488000													15	54					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52496360	52496360	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:52496360A>T	ENST00000216286.5	-	10	2305	c.2306T>A	c.(2305-2307)aTg>aAg	p.M769K	NID2_ENST00000541773.1_Missense_Mutation_p.M716K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	769	EGF-like 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGTGTCACACATGTGGCTCCC	0.517000													43	10					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70978624	70978624	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:70978624C>A	ENST00000276594.2	-	5	1230	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	343	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q343H(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCCTTGACACTGCACAGCAA	0.458000													45	59					2.77807e-22	4.13271e-22	1	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135770132	135770132	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:135770132G>C	ENST00000250617.6	-	11	2409	c.1204C>G	c.(1204-1206)Cag>Gag	p.Q402E	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q248E|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q275E|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q248E	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	402	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.Q402K(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGAATATCCTGATGATCTGGA	0.378000													10	43					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214625275	214625275	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:214625275C>A	ENST00000366956.5	-	3	411	c.217G>T	c.(217-219)Gca>Tca	p.A73S	PTPN14_ENST00000543945.1_Missense_Mutation_p.A73S	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	73	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACCCATCGTGCTTGCTGGCTC	0.458000													33	50					2.09667e-21	3.0867e-21	1	1	0
PSORS1C2	170680	broad.mit.edu	37	6	31106773	31106773	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:31106773G>A	ENST00000259845.4	-	1	354	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000547221.1_Intron	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN	psoriasis susceptibility 1 candidate 2	11						extracellular region				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAAAGGACCAGGATCCCCAGG	0.582000													39	41					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470763	111470763	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:111470763G>T	ENST00000265162.5	+	16	2647	c.2305G>T	c.(2305-2307)Gag>Tag	p.E769*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	769					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTCGTTATTTGAGCAGTGGCT	0.403000													75	22					1.25089e-41	2.14477e-41	1	1	0
PMFBP1	83449	broad.mit.edu	37	16	72188346	72188346	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:72188346C>A	ENST00000537465.1	-	4	336	c.178G>T	c.(178-180)Gca>Tca	p.A60S	PMFBP1_ENST00000237353.10_Missense_Mutation_p.A60S|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000355636.6_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	60										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AATGCCTGTGCTTGCTTCTTG	0.408000													31	53					1.36161e-19	1.94055e-19	1	1	0
XIST	7503	broad.mit.edu	37	X	73063052	73063052	+	RNA	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:73063052G>A	ENST00000429829.1	-	0	9536					NR_001564.2																						GGGATACTAGGGCATAATATC	0.443000													17	15					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61291874	61291874	+	Missense_Mutation	SNP	G	G	T	rs145692715		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:61291874G>T	ENST00000217159.1	+	4	1203	c.998G>T	c.(997-999)cGg>cTg	p.R333L	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.R333L	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	333					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GGTTACCCTCGGCAGCTGCCA	0.642000													56	18					3.76628e-20	5.43207e-20	1	1	0
MFN1	55669	broad.mit.edu	37	3	179093018	179093018	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:179093018C>T	ENST00000471841.1	+	10	1112	c.986C>T	c.(985-987)tCg>tTg	p.S329L	MFN1_ENST00000280653.7_Missense_Mutation_p.S329L|MFN1_ENST00000263969.5_Missense_Mutation_p.S329L	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	329					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAGTGTATCTCGCAGTCAGCA	0.408000													17	18					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369252	86369252	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:86369252C>A	ENST00000400286.2	-	2	1990	c.1392G>T	c.(1390-1392)ctG>ctT	p.L464L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	464						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TATTTAAATACAGGACTTTAA	0.348000													28	16					2.12542e-12	2.68383e-12	1	1	0
KRT76	51350	broad.mit.edu	37	12	53164945	53164945	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:53164945T>A	ENST00000332411.2	-	7	1375	c.1322A>T	c.(1321-1323)aAg>aTg	p.K441M		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	441	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTGGCGTCCTTGAGGGCCAT	0.542000													65	22					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43415002	43415002	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:43415002G>T	ENST00000187910.2	-	3	501	c.436C>A	c.(436-438)Ccc>Acc	p.P146T	PSG6_ENST00000402603.4_Missense_Mutation_p.P146T|PSG6_ENST00000292125.2_Missense_Mutation_p.P146T	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GAGGGCTTGGGAGTCTCCGCT	0.517000													190	47					5.43644e-92	9.81703e-92	1	1	0
FOXA1	3169	broad.mit.edu	37	14	38061610	38061610	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:38061610G>A	ENST00000250448.2	-	2	440	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.L94L	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	127					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TAGGGGCCCAGGCCATTCATG	0.741000													11	25					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39550389	39550389	+	Missense_Mutation	SNP	G	G	T	rs34293483	byFrequency	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:39550389G>T	ENST00000251645.2	-	7	1182	c.1130C>A	c.(1129-1131)gCg>gAg	p.A377E		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	377	Tail.		A -> V (in dbSNP:rs34293483).		epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTTGCTGCACGCGTTGGTCGT	0.562000													49	38					1.08114e-33	1.7795e-33	1	1	0
TMEM5	10329	broad.mit.edu	37	12	64173797	64173797	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:64173797C>T	ENST00000261234.6	+	1	215	c.57C>T	c.(55-57)ttC>ttT	p.F19F	RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	19						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ACTGCCTATTCTCCCTCTACG	0.711000													17	31					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756122	10756122	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:10756122T>A	ENST00000416569.2	-	3	1292	c.1266A>T	c.(1264-1266)gtA>gtT	p.V422V	XKR6_ENST00000304437.2_Silent_p.V143V	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	422						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ACACGATCCCTACCACCATGT	0.498000													11	6					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306969	61306969	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:61306969C>G	ENST00000341074.5	-	6	626	c.511G>C	c.(511-513)Gat>Cat	p.D171H	SERPINB4_ENST00000356424.6_Missense_Mutation_p.D171H	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.D171N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGTGTCGTATCATTGCCAATA	0.348000													17	31					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887885	9887885	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:9887885T>A	ENST00000306084.6	+	2	1608	c.1409T>A	c.(1408-1410)cTg>cAg	p.L470Q	TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.L403Q|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	470	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGGGAGAGGCTGGTGGCTGTG	0.572000													69	38					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53156635	53156635	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:53156635C>A	ENST00000542638.1	-	3	632	c.185G>T	c.(184-186)cGg>cTg	p.R62L	ELOVL5_ENST00000370918.4_Missense_Mutation_p.R62L|ELOVL5_ENST00000541407.1_Missense_Mutation_p.R62L|ELOVL5_ENST00000304434.6_Missense_Mutation_p.R62L|ELOVL5_ENST00000486973.1_5'UTR			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	62					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TAAAATCCCCCGGCAAGAGAA	0.388000													68	202					1.37693e-34	2.28077e-34	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32774454	32774454	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:32774454G>T	ENST00000421745.2	+	65	13184	c.13050G>T	c.(13048-13050)ggG>ggT	p.G4350G		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4350					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGACTAGAGGGCAGAACAGTA	0.423000													57	69					7.92265e-33	1.29177e-32	1	1	0
KDM4C	23081	broad.mit.edu	37	9	6984192	6984192	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:6984192A>T	ENST00000381309.3	+	10	1707	c.1142A>T	c.(1141-1143)aAa>aTa	p.K381I	KDM4C_ENST00000543771.1_Missense_Mutation_p.K381I|KDM4C_ENST00000428870.2_Missense_Mutation_p.K68I|KDM4C_ENST00000536108.1_Missense_Mutation_p.K200I|KDM4C_ENST00000442236.2_Missense_Mutation_p.K200I|KDM4C_ENST00000381306.3_Missense_Mutation_p.K381I|KDM4C_ENST00000535193.1_Missense_Mutation_p.K403I	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	381					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TCTACCTCTAAAAGGCCTAAG	0.483000													26	68					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85906054	85906054	+	Missense_Mutation	SNP	C	C	A	rs151230279	byFrequency	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:85906054C>A	ENST00000373131.1	+	3	780	c.617C>A	c.(616-618)gCg>gAg	p.A206E	DACH2_ENST00000508860.1_Missense_Mutation_p.A52E|DACH2_ENST00000373125.4_Missense_Mutation_p.A219E|DACH2_ENST00000510272.1_5'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ACAGCTGCAGCGATGGCTGAG	0.378000													10	21					1.08611e-07	1.2576e-07	1	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209790	140209790	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140209790G>T	ENST00000529310.1	+	1	2228	c.2114G>T	c.(2113-2115)tGc>tTc	p.C705F	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGCCATCTGCGCGGTATCC	0.692000													53	83					1.10885e-35	1.86039e-35	1	1	0
KCNA1	3736	broad.mit.edu	37	12	5020926	5020926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:5020926G>T	ENST00000382545.3	+	2	1489	c.382G>T	c.(382-384)Gag>Tag	p.E128*	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	128					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAGGCCATGGAGAAGTTCCG	0.632000													50	15					4.10826e-27	6.39154e-27	1	1	0
MARCH7	64844	broad.mit.edu	37	2	160605381	160605381	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:160605381G>C	ENST00000259050.3	+	5	1702	c.1580G>C	c.(1579-1581)aGa>aCa	p.R527T	MARCH7_ENST00000409591.1_Missense_Mutation_p.R489T|MARCH7_ENST00000539065.1_Missense_Mutation_p.R471T|MARCH7_ENST00000409175.1_Missense_Mutation_p.R527T	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	527							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GCGCCTTCAAGAGATCCAGAA	0.328000													30	77					0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	191674	191674	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:191674C>T	ENST00000328278.3	+	1	49	c.21C>T	c.(19-21)ctC>ctT	p.L7L		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	7										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TGAGGTCACTCCGCTTCATTT	0.607000													10	34					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9800897	9800897	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:9800897C>G	ENST00000457674.2	-	5	1800	c.1282G>C	c.(1282-1284)Gtt>Ctt	p.V428L	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTGAGGAAACAGCAAAAGCT	0.408000													12	18					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108032169	108032169	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:108032169G>A	ENST00000278612.8	-	17	3749	c.3644C>T	c.(3643-3645)tCa>tTa	p.S1215L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1215					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTATTGTTTGAAGATGTGCC	0.363000													350	42					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024399	71024399	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:71024399G>T	ENST00000344526.5	+	3	619	c.430G>T	c.(430-432)Gta>Tta	p.V144L	C4orf40_ENST00000502294.1_Missense_Mutation_p.V144L|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	144	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCACACCTGTAGCAGCTGA	0.607000													55	13					1.38658e-30	2.23282e-30	1	1	0
ZNF568	374900	broad.mit.edu	37	19	37488450	37488450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:37488450C>A	ENST00000455427.2	+	9	1994	c.1665C>A	c.(1663-1665)taC>taA	p.Y555*		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAACCCTACGAGTGTAAGG	0.473000													6	0					0.105934	0.107517	1	1	0
DOPEY2	9980	broad.mit.edu	37	21	37572753	37572753	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:37572753G>T	ENST00000399151.3	+	4	530	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	149					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCTTCATCGTGGGCCTGCT	0.622000													39	65					6.33695e-27	9.82951e-27	1	1	0
BSN	8927	broad.mit.edu	37	3	49680127	49680127	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:49680127G>C	ENST00000296452.4	+	3	1174	c.1060G>C	c.(1060-1062)Ggc>Cgc	p.G354R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	354					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTCGGCCTTGGCGCGTCACT	0.662000													15	33					0	0	1	0	0
C16orf82	162083	broad.mit.edu	37	16	27078133	27078133	+	RNA	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:27078133A>T	ENST00000505035.1	+	0	106							Q7Z2V1	TNT_HUMAN																			CACTGATGTCACTGGTGCCAG	0.602000													9	29					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2928653	2928653	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:2928653T>C	ENST00000261596.4	-	11	1794	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	519					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AGCCCAGTTATAGTAACTGTG	0.493000													71	58					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7660479	7660479	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:7660479G>T	ENST00000572933.1	+	13	3435	c.1975G>T	c.(1975-1977)Gtg>Ttg	p.V659L	DNAH2_ENST00000389173.2_Missense_Mutation_p.V659L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	659	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATTACGTGGTGAACGTAGC	0.542000													146	146					7.51503e-75	1.3508e-74	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36698472	36698472	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:36698472C>A	ENST00000399881.3	+	16	1691	c.1654C>A	c.(1654-1656)Ctc>Atc	p.L552I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	552	Segment S8.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAAGATGCACCTCCTGTTGAT	0.418000													6	9					3.09899e-07	3.55144e-07	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46252478	46252478	+	Silent	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:46252478T>C	ENST00000510861.1	-	10	1376	c.1203A>G	c.(1201-1203)gaA>gaG	p.E401E	GABRA2_ENST00000381620.4_Silent_p.E401E|GABRA2_ENST00000507069.1_Silent_p.E461E|GABRA2_ENST00000540012.1_Silent_p.E406E|GABRA2_ENST00000514090.1_Silent_p.E401E|GABRA2_ENST00000356504.1_Silent_p.E401E			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	401					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGGCTTGTTTTCTGGCTTCT	0.418000													141	114					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608282	4608282	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:4608282G>C	ENST00000312614.4	+	1	262	c.240G>C	c.(238-240)tgG>tgC	p.W80C		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGCAATCTGGATGGATTCCA	0.502000													82	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407507	179407507	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179407507G>A	ENST00000589042.1	-	348	97298	c.97074C>T	c.(97072-97074)caC>caT	p.H32358H	TTN_ENST00000359218.5_Silent_p.H23418H|TTN_ENST00000342992.6_Silent_p.H29790H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.H30717H|TTN_ENST00000460472.2_Silent_p.H23293H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.H23485H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30717	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTTTAGTGTGAGTTTCAA	0.438000													38	140					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792786	143792786	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:143792786G>A	ENST00000408949.2	+	1	646	c.586G>A	c.(586-588)Gtg>Atg	p.V196M		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCTCAACCAGGTGGTCCTATT	0.517000													50	156					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782958	80782958	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:80782958T>C	ENST00000466387.1	+	16	2405	c.1681T>C	c.(1681-1683)Tat>Cat	p.Y561H	CTNNA2_ENST00000540488.1_Missense_Mutation_p.Y561H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Y561H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Y561H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Y595H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Y561H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Y240H			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	561					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GATGGAGAACTATGAAGCTGG	0.507000													45	195					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71050594	71050594	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:71050594T>A	ENST00000283228.2	-	13	2222	c.1770A>T	c.(1768-1770)gcA>gcT	p.A590A	PTPRR_ENST00000440835.2_Silent_p.A345A|PTPRR_ENST00000378778.1_Silent_p.A384A|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000549308.1_Silent_p.A345A|PTPRR_ENST00000342084.4_Silent_p.A478A	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	590	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACCTATTCCTGCACTGAAAA	0.373000													42	16					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127641324	127641324	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:127641324T>A	ENST00000508053.1	-	50	6527	c.5553A>T	c.(5551-5553)atA>atT	p.I1851I	FBN2_ENST00000262464.4_Silent_p.I1851I			P35556	FBN2_HUMAN	fibrillin 2	1851	EGF-like 30; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCACTCATCTATATCTGAAA	0.393000													28	31					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416412	48416412	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:48416412G>T	ENST00000249598.1	-	1	441	c.282C>A	c.(280-282)aaC>aaA	p.N94K		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	94					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						ACGTGTACCTGTTGTACAGGT	0.582000													29	90					5.60225e-13	7.19631e-13	1	1	0
RNF113B	140432	broad.mit.edu	37	13	98829427	98829427	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:98829427A>T	ENST00000267291.6	-	1	92	c.64T>A	c.(64-66)Ttc>Atc	p.F22I	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	22							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGCTTTTTGAAGAGGAAGGTG	0.652000													9	35					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101841439	101841439	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:101841439C>A	ENST00000370418.3	-	0	195					NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1						proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CTTAAACAACCTAGCCTCTTC	0.532000													7	5					0.00198382	0.00207273	1	1	0
CER1	9350	broad.mit.edu	37	9	14722419	14722419	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:14722419G>T	ENST00000380911.3	-	1	296	c.252C>A	c.(250-252)ggC>ggA	p.G84G		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	84					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TCCAGAACCTGCCAAATCTGG	0.562000													83	21					5.14759e-42	8.83575e-42	1	1	0
TTC14	151613	broad.mit.edu	37	3	180320096	180320096	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:180320096C>G	ENST00000412756.2	+	1	116	c.47C>G	c.(46-48)tCt>tGt	p.S16C	TTC14_ENST00000382584.4_Missense_Mutation_p.S16C|TTC14_ENST00000296015.4_Missense_Mutation_p.S16C	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	16							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CACGGGTCGTCTTTGCTCTCT	0.652000													28	30					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926583	157926583	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:157926583T>C	ENST00000389413.3	-	9	1445	c.1342A>G	c.(1342-1344)Aag>Gag	p.K448E	PTPRN2_ENST00000389416.4_Missense_Mutation_p.K431E|PTPRN2_ENST00000389418.4_Missense_Mutation_p.K448E|PTPRN2_ENST00000409483.1_Missense_Mutation_p.K410E|PTPRN2_ENST00000404321.2_Missense_Mutation_p.K471E	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	448						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCTGGCTCTTGACGTTCTCC	0.612000													38	136					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3831427	3831427	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:3831427T>A	ENST00000262961.4	-	5	736	c.726A>T	c.(724-726)tcA>tcT	p.S242S		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	242	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGCTGCTTCCTGAGCCTGCAG	0.716000													3	1					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35857137	35857137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:35857137G>T	ENST00000303115.3	+	1	187	c.58G>T	c.(58-60)Gga>Tga	p.G20*	IL7R_ENST00000511031.1_Intron|IL7R_ENST00000511982.1_Nonsense_Mutation_p.G20*|IL7R_ENST00000506850.1_Nonsense_Mutation_p.G20*|IL7R_ENST00000343305.4_Nonsense_Mutation_p.G20*	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	20					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGTCGTTTCTGGAGAAAGTGG	0.383000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						93	90					1.73998e-50	3.03331e-50	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107842070	107842070	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:107842070G>A	ENST00000328300.6	+	25	2162	c.1918G>A	c.(1918-1920)Gca>Aca	p.A640T	COL4A5_ENST00000361603.2_Missense_Mutation_p.A640T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	640	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAAGGTGTGGCAGGAAATCC	0.473000									Alport syndrome with Diffuse Leiomyomatosis				33	16					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891611	132891611	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:132891611C>A	ENST00000275198.1	+	1	151	c.151C>A	c.(151-153)Ctc>Atc	p.L51I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	51						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GTTTGGAAACCTCCTGGTGAT	0.527000													37	121					9.73076e-26	1.4916e-25	1	1	0
TLR4	7099	broad.mit.edu	37	9	120476083	120476083	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:120476083C>A	ENST00000355622.6	+	3	1778	c.1677C>A	c.(1675-1677)tcC>tcA	p.S559S	TLR4_ENST00000394487.4_Silent_p.S519S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	559					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TAATGACTTCCAAAAAACAGG	0.373000													30	6					1.88708e-17	2.59018e-17	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158637764	158637764	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158637764T>A	ENST00000368148.3	-	15	2102	c.1922A>T	c.(1921-1923)cAg>cTg	p.Q641L	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q641L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	641					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q641R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGTTTTCTGTATGTTTTC	0.468000													38	268					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64335178	64335178	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:64335178G>T	ENST00000301891.4	+	7	1540	c.1166G>T	c.(1165-1167)cGg>cTg	p.R389L	SLC22A11_ENST00000377581.3_Missense_Mutation_p.R389L|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	389					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TTCCTGGGCCGGGCCACCACT	0.642000													21	64					8.10497e-08	9.41262e-08	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139164699	139164699	+	Silent	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:139164699G>C	ENST00000395297.1	-	13	2189	c.2019C>G	c.(2017-2019)tcC>tcG	p.S673S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	673										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGATGACCCCGGATAGCACTG	0.522000										HNSCC(54;0.14)			56	95					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799174	57799174	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:57799174T>A	ENST00000302622.3	+	1	773	c.750T>A	c.(748-750)acT>acA	p.T250T	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CTCACCTGACTGTGGTGAGCC	0.512000													104	33					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44187550	44187550	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:44187550T>A	ENST00000357199.4	-	3	296	c.218A>T	c.(217-219)aAg>aTg	p.K73M	WFDC8_ENST00000289953.2_Missense_Mutation_p.K73M	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	73	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CTGGTATTCCTTGCAGTCAAA	0.478000													75	30					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102753088	102753088	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:102753088C>T	ENST00000311916.2	+	5	2061	c.1876C>T	c.(1876-1878)Ctc>Ttc	p.L626F	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	626	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAAGAACTCCCTCACCTTCTC	0.532000													5	192					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465931	48465931	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:48465931G>A	ENST00000358536.4	-	3	359	c.90C>T	c.(88-90)ccC>ccT	p.P30P	PLXNB1_ENST00000456774.1_Silent_p.P30P|PLXNB1_ENST00000358459.4_Silent_p.P30P|PLXNB1_ENST00000296440.6_Silent_p.P30P|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	30	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGTGCCATTGGGAGTGAATG	0.647000													4	2					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37276973	37276973	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:37276973T>C	ENST00000233099.5	-	18	2614	c.2519A>G	c.(2518-2520)aAc>aGc	p.N840S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.N840S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	840							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGTACTTTTGTTTTCAGCTAA	0.383000													4	35					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	440067	440067	+	Splice_Site	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:440067A>T	ENST00000256509.2	+	25	3894	c.3253_splice	c.e25+1	p.R1084_splice	CHL1_ENST00000397491.2_Splice_Site_p.R1068_splice	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1068					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAAGAGGGAGAGGTGAGAAAT	0.378000													64	18					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89599030	89599030	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:89599030C>G	ENST00000294671.2	-	10	1711	c.1573G>C	c.(1573-1575)Gaa>Caa	p.E525Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	525						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GCTATGTTTTCCTGGAAACTT	0.443000													34	78					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811171	5811171	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:5811171G>T	ENST00000381095.3	-	6	2765	c.2138C>A	c.(2137-2139)cCc>cAc	p.P713H	NLGN4X_ENST00000538097.1_Missense_Mutation_p.P713H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P733H|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P713H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P713H	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	713					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTTCTCTGGGGACTGGGGCG	0.542000													23	18					1.22574e-08	1.44826e-08	1	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105890147	105890147	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:105890147C>A	ENST00000393359.2	-	9	2092	c.1665_splice	c.e9-1	p.V556_splice	TGFBRAP1_ENST00000258449.1_Splice_Site_p.V556_splice			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	556					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGAACTCCGACCTGAAAGAGG	0.398000													26	71					4.4004e-07	5.02077e-07	1	1	0
ZNF280D	54816	broad.mit.edu	37	15	56999305	56999305	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:56999305C>A	ENST00000267807.7	-	3	219	c.3G>T	c.(1-3)atG>atT	p.M1I	ZNF280D_ENST00000558320.1_Start_Codon_SNP_p.M1I|ZNF280D_ENST00000396245.1_Intron|ZNF280D_ENST00000559237.1_Intron|ZNF280D_ENST00000559000.1_Intron	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GGTTGTCGCCCATCAAGCTGC	0.363000													43	7					4.14194e-30	6.63559e-30	1	1	0
CSPP1	79848	broad.mit.edu	37	8	68049690	68049690	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:68049690G>T	ENST00000262210.5	+	15	1843		c.e15-1		CSPP1_ENST00000412460.1_Splice_Site	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1							centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATGTTGTCAAGATTCGGGAAA	0.303000													5	13					1.23904e-05	1.36487e-05	1	1	0
HAPLN1	1404	broad.mit.edu	37	5	82940298	82940298	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:82940298G>C	ENST00000274341.4	-	4	1509	c.659C>G	c.(658-660)aCa>aGa	p.T220R		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	220	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TCTGGGCTTTGTGATGGGATA	0.552000													36	41					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108447974	108447974	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:108447974C>A	ENST00000263054.6	-	10	1543	c.1536G>T	c.(1534-1536)agG>agT	p.R512S	SORCS1_ENST00000344440.6_Missense_Mutation_p.R512S|SORCS1_ENST00000369698.1_Missense_Mutation_p.R47S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	512						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGGGGTCCCCCCTTAGATCCG	0.488000													13	80					1.52009e-12	1.93354e-12	1	1	0
SLAMF6	114836	broad.mit.edu	37	1	160465953	160465953	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:160465953G>A	ENST00000368059.3	-	2	349	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	SLAMF6_ENST00000368057.3_Silent_p.L94L|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	94						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTGAGTTGCAGGGAGTAGGAC	0.473000													184	119					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854764	24854764	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:24854764C>A	ENST00000313367.2	-	19	2537	c.2086G>T	c.(2086-2088)Ggg>Tgg	p.G696W	OSBPL3_ENST00000431825.2_Missense_Mutation_p.G629W|OSBPL3_ENST00000396431.1_Missense_Mutation_p.G665W|OSBPL3_ENST00000409069.1_Missense_Mutation_p.G629W|OSBPL3_ENST00000396429.1_Missense_Mutation_p.G660W|OSBPL3_ENST00000352860.1_Missense_Mutation_p.G665W|OSBPL3_ENST00000353930.1_Missense_Mutation_p.G660W	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	696					lipid transport		lipid binding|protein binding	p.G696R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CACCTCTGCCCGCTTAAGATG	0.398000													34	139					9.04072e-19	1.26311e-18	1	1	0
KPRP	448834	broad.mit.edu	37	1	152733779	152733779	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152733779G>T	ENST00000368773.1	+	2	1773	c.1715G>T	c.(1714-1716)gGg>gTg	p.G572V	KPRP_ENST00000606109.1_Missense_Mutation_p.G572V	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	572						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGAAAGGGGAAGCAAAG	0.502000													44	65					8.20599e-20	1.17401e-19	1	1	0
SV2B	9899	broad.mit.edu	37	15	91769887	91769887	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:91769887G>T	ENST00000394232.1	+	2	864	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.A132S|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	132					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGTGAGTTTTGCCCTGCCCAG	0.512000													14	41					2.23348e-06	2.49907e-06	1	1	0
ARMCX1	51309	broad.mit.edu	37	X	100809210	100809210	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:100809210G>A	ENST00000372829.3	+	4	1668	c.1297G>A	c.(1297-1299)Gca>Aca	p.A433T		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	433						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GAAAATCAAAGCACTAGCAAA	0.348000													10	38					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	331777	331777	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:331777G>T	ENST00000400256.3	-	8	2161	c.1953_splice	c.e8-1	p.Q652_splice		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	652	C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTTATCCATTGCTGAAAAACA	0.418000													42	49					6.4771e-29	1.02298e-28	1	1	0
KDR	3791	broad.mit.edu	37	4	55961050	55961050	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:55961050C>A	ENST00000263923.4	-	21	3185	c.2890G>T	c.(2890-2892)Gac>Tac	p.D964Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	964	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTGATGCTGTCCAAGCGCCGT	0.498000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			30	92					1.06801e-11	1.33352e-11	1	1	0
TBX20	57057	broad.mit.edu	37	7	35288373	35288373	+	Missense_Mutation	SNP	G	G	C	rs112862467		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:35288373G>C	ENST00000408931.3	-	3	987	c.461C>G	c.(460-462)cCt>cGt	p.P154R		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	154						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTTGTCCACAGGGACGATGTC	0.597000													24	135					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199873	41199873	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:41199873T>C	ENST00000263413.3	-	4	706	c.442A>G	c.(442-444)Agt>Ggt	p.S148G	C6_ENST00000337836.5_Missense_Mutation_p.S148G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	148	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACATTACCACTGTCACAGCGA	0.403000													5	158					0	0	1	0	0
TMEM59	9528	broad.mit.edu	37	1	54518700	54518700	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:54518700C>A	ENST00000234831.5	-	1	411	c.162G>T	c.(160-162)ttG>ttT	p.L54F	TMEM59_ENST00000371337.3_Missense_Mutation_p.L54F|TMEM59_ENST00000371341.1_Intron	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	54						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGGGGTAGGTCAACTGACAGG	0.637000													39	99					2.40579e-17	3.29636e-17	1	1	0
ADH1C	126	broad.mit.edu	37	4	100257871	100257871	+	RNA	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:100257871G>A	ENST00000515683.1	-	0	1517					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGGTAGAGGAGGCTGAAAACT	0.398000													26	9					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099515	50099515	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:50099515C>T	ENST00000418929.2	+	4	1935	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	400	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ATGAGGAGTTCCTTATCCAGC	0.677000													15	18					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993819	35993819	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:35993819C>A	ENST00000297866.5	+	15	2568	c.2502C>A	c.(2500-2502)ccC>ccA	p.P834P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	834										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACAATGTACCCAGTGGACACA	0.398000													51	21					1.35964e-18	1.89452e-18	1	1	0
COLEC12	81035	broad.mit.edu	37	18	335089	335089	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr18:335089G>A	ENST00000400256.3	-	6	1676	c.1469C>T	c.(1468-1470)gCt>gTt	p.A490V		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	490	Collagen-like 2.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGGGGGACCAGCTGGTCCAAT	0.672000													20	195					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43284730	43284730	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:43284730G>A	ENST00000263246.3	-	5	729	c.528C>T	c.(526-528)agC>agT	p.S176S	PACSIN2_ENST00000407585.1_Silent_p.S176S|PACSIN2_ENST00000403744.3_Silent_p.S176S|PACSIN2_ENST00000402229.1_Silent_p.S176S|PACSIN2_ENST00000337959.4_Silent_p.S176S|PACSIN2_ENST00000496919.1_5'UTR	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	176					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GGTCTGCCTTGCTGTTGGCTT	0.458000													32	99					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520087	113520087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:113520087C>A	ENST00000284601.3	-	4	1128	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	354					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTAACCCCTCTGCTTTATTT	0.388000													54	28					2.69953e-25	4.1259e-25	1	1	0
FCRL2	79368	broad.mit.edu	37	1	157738392	157738392	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:157738392G>A	ENST00000361516.3	-	5	743	c.695C>T	c.(694-696)aCa>aTa	p.T232I	FCRL2_ENST00000392274.3_Missense_Mutation_p.T232I|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	232	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACATTTCCTGTACCCCCAGC	0.552000													226	206					0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97720472	97720472	+	RNA	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:97720472T>A	ENST00000472788.1	-	0	895					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GGGAAACTCTTGCAGGAACAG	0.403000													27	20					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53930385	53930385	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:53930385C>A	ENST00000371445.3	+	3	881	c.826C>A	c.(826-828)Ccg>Acg	p.P276T		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	276	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						gccCCTTCCACCGCTTCCACC	0.667000													33	41					1.47197e-15	1.96682e-15	1	1	0
ALKBH5	54890	broad.mit.edu	37	17	18111625	18111625	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:18111625A>G	ENST00000399138.4	+	4	1105	c.1100A>G	c.(1099-1101)tAc>tGc	p.Y367C	ALKBH5_ENST00000541285.1_Missense_Mutation_p.Y26C	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	367						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					TCTGAGAACTACTGGCGCAAG	0.637000													26	102					0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782404	6782404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:6782404G>T	ENST00000297436.2	-	2	279	c.239C>A	c.(238-240)tCa>tAa	p.S80*		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	80					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ATATTCTGTTGAATAACAGGA	0.468000													25	11					3.73988e-18	5.16507e-18	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17228341	17228341	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:17228341C>T	ENST00000261381.6	-	9	2100	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	672					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCAGCTGTTCTCCCCATCCG	0.612000													17	96					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166224	71166224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:71166224C>T	ENST00000357585.2	+	2	1135	c.766C>T	c.(766-768)Cga>Tga	p.R256*	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Nonsense_Mutation_p.R256*	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	256					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GAAGGTCACCCGAATGGTGTC	0.507000													39	92					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113166663	113166663	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:113166663A>G	ENST00000401783.2	-	39	9946	c.9610T>C	c.(9610-9612)Tct>Cct	p.S3204P	SVEP1_ENST00000297826.5_Missense_Mutation_p.S1130P|SVEP1_ENST00000374469.1_Missense_Mutation_p.S3181P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3204	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATGACACAGAAACTTGCCTA	0.398000													180	51					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77752710	77752710	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:77752710G>T	ENST00000344720.5	+	2	1093	c.67G>T	c.(67-69)Ggt>Tgt	p.G23C	AK5_ENST00000354567.2_Missense_Mutation_p.G49C|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	49					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AAAGGAACTGGGTGGCTGTGA	0.398000													51	17					6.32628e-17	8.61521e-17	1	1	0
TGM1	7051	broad.mit.edu	37	14	24728365	24728365	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:24728365C>A	ENST00000206765.6	-	7	1198	c.1075G>T	c.(1075-1077)Gtg>Ttg	p.V359L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	359			V -> M (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGGATCTCCACGCTGCCCACC	0.592000													20	31					1.00905e-13	1.31126e-13	1	1	0
DNAI2	64446	broad.mit.edu	37	17	72308174	72308174	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:72308174C>T	ENST00000579490.1	+	11	1833	c.1698C>T	c.(1696-1698)atC>atT	p.I566I	DNAI2_ENST00000311014.6_Silent_p.I509I|DNAI2_ENST00000582036.1_Silent_p.I497I|DNAI2_ENST00000307504.5_Silent_p.I366I|DNAI2_ENST00000446837.2_Silent_p.I509I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	509					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAGAGAAGATCCTGGAGGCCA	0.652000									Kartagener syndrome				12	60					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261117	158261117	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158261117G>T	ENST00000368170.3	+	2	534	c.255G>T	c.(253-255)gaG>gaT	p.E85D		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	85					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGACCTAGAGTTGTTATTTC	0.408000													58	129					1.19403e-26	1.84661e-26	1	1	0
OR6B3	150681	broad.mit.edu	37	2	240984726	240984726	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:240984726A>C	ENST00000319423.4	-	1	763	c.764T>G	c.(763-765)tTg>tGg	p.L255W		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CATGAAAAGCAAGGCTGTATA	0.572000													73	12					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687739	49687739	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:49687739G>C	ENST00000249601.4	-	4	687	c.391C>G	c.(391-393)Cgt>Ggt	p.R131G	ARHGAP22_ENST00000374172.1_Missense_Mutation_p.R6G|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R41G|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R41G|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R137G|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R131G	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	131	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCATGTCACGCTGGGAGCTG	0.672000													15	30					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694747	42694747	+	Splice_Site	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:42694747G>A	ENST00000358131.5	+	6	1510	c.1302_splice	c.e6+1	p.Q434_splice	TOX2_ENST00000423191.1_Splice_Site_p.Q410_splice|TOX2_ENST00000435864.2_Splice_Site_p.Q330_splice|TOX2_ENST00000372999.1_Splice_Site_p.Q410_splice|TOX2_ENST00000341197.3_Splice_Site_p.Q452_splice	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	434	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGGGCCACAGGTAAGCAGGG	0.632000													9	5					0	0	1	0	0
XCL1	6375	broad.mit.edu	37	1	168550398	168550398	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:168550398C>G	ENST00000367818.3	+	3	450	c.285C>G	c.(283-285)atC>atG	p.I95M		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	95					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					ATAACATGATCCAGACCAAGC	0.532000													4	66					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241700763	241700763	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:241700763C>A	ENST00000498729.2	-	24	2394	c.2148G>T	c.(2146-2148)gcG>gcT	p.A716A	KIF1A_ENST00000320389.7_Silent_p.A707A	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	707					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGGCCCAGAGCGCCAGCTCAC	0.637000													31	7					5.77227e-19	8.10817e-19	1	1	0
BFSP2	8419	broad.mit.edu	37	3	133191384	133191384	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:133191384G>T	ENST00000302334.2	+	6	1308	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	407	Tail.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GTCCTACCACGCCCTGCTGGA	0.562000													12	5					0.000978159	0.00103656	1	1	0
ZNF215	7762	broad.mit.edu	37	11	6977200	6977200	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:6977200C>T	ENST00000278319.5	+	7	1580	c.992C>T	c.(991-993)tCt>tTt	p.S331F	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.S331F	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	331					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AGAAAGGGGTCTCCAAAATGT	0.313000													46	13					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119100606	119100606	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:119100606G>A	ENST00000334464.5	-	2	1119	c.880C>T	c.(880-882)Ccg>Tcg	p.P294S		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	294					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GGAAAAAACGGCTTAAACCTG	0.353000													4	34					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205028233	205028233	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:205028233T>A	ENST00000331830.4	+	6	793	c.509T>A	c.(508-510)cTc>cAc	p.L170H		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	170	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGCTGGCTCCTCAACGAGTTC	0.607000													43	21					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29835026	29835026	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:29835026C>A	ENST00000354373.2	+	1	455	c.246C>A	c.(244-246)tcC>tcA	p.S82S	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	82							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GTTGCTGTTCCATGGTCTCTC	0.517000													67	105					5.26073e-25	8.02466e-25	1	1	0
PRODH2	58510	broad.mit.edu	37	19	36297412	36297412	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:36297412A>T	ENST00000301175.3	-	8	1166	c.1149T>A	c.(1147-1149)taT>taA	p.Y383*		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	383					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTGTCCAGATATGCACCTC	0.642000													102	28					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744308	25744308	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:25744308C>A	ENST00000357816.2	-	3	1568	c.1093G>T	c.(1093-1095)Gac>Tac	p.D365Y	AMER2_ENST00000515384.1_Missense_Mutation_p.D484Y|AMER2_ENST00000381853.3_Missense_Mutation_p.D365Y					APC membrane recruitment protein 2																		GAGGACGCGTCCTTGGCCGCT	0.657000													20	38					9.7654e-05	0.000105415	1	1	0
SLC26A7	115111	broad.mit.edu	37	8	92346559	92346559	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:92346559C>A	ENST00000276609.3	+	6	918	c.679C>A	c.(679-681)Cga>Aga	p.R227R	SLC26A7_ENST00000523719.1_Silent_p.R227R|SLC26A7_ENST00000309536.2_Silent_p.R227R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	227						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAAGTCTGTGCGACTGGAAGC	0.328000													8	54					9.70103e-10	1.16921e-09	1	1	0
ACAP3	116983	broad.mit.edu	37	1	1235399	1235399	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:1235399C>T	ENST00000354700.5	-	8	819	c.617G>A	c.(616-618)aGc>aAc	p.S206N	ACAP3_ENST00000353662.3_Missense_Mutation_p.S164N	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	206					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GTGCAGGAGGCTGTAGCCCTG	0.652000													13	28					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109959	43109959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:43109959G>T	ENST00000230419.4	+	13	2190	c.1969G>T	c.(1969-1971)Gag>Tag	p.E657*	PTK7_ENST00000345201.2_Nonsense_Mutation_p.E617*|PTK7_ENST00000481273.1_Nonsense_Mutation_p.E665*|PTK7_ENST00000349241.2_Nonsense_Mutation_p.E527*|PTK7_ENST00000352931.2_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	657	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CGTGGCCCCTGAGGACTCAGG	0.622000													239	89					1.32311e-121	2.40593e-121	1	1	0
PTK7	5754	broad.mit.edu	37	6	43113127	43113127	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:43113127G>T	ENST00000230419.4	+	16	2818	c.2597G>T	c.(2596-2598)cGg>cTg	p.R866L	PTK7_ENST00000345201.2_Missense_Mutation_p.R826L|PTK7_ENST00000481273.1_Missense_Mutation_p.R874L|PTK7_ENST00000349241.2_Missense_Mutation_p.R736L|PTK7_ENST00000352931.2_Missense_Mutation_p.R810L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	866	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCTGTGCCGGGAGGCTGAG	0.607000													38	203					2.35958e-20	3.4095e-20	1	1	0
IL12RB1	3594	broad.mit.edu	37	19	18174742	18174742	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:18174742C>A	ENST00000600835.1	-	14	1865	c.1562G>T	c.(1561-1563)cGa>cTa	p.R521L	IL12RB1_ENST00000593993.1_Missense_Mutation_p.R521L|IL12RB1_ENST00000430026.2_Missense_Mutation_p.R521L			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	521	Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGTGTCTGCTCGCACCTGCAC	0.627000													6	19					0.00116845	0.00123235	1	1	0
CRHBP	1393	broad.mit.edu	37	5	76249516	76249516	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:76249516C>G	ENST00000274368.4	+	2	594	c.172C>G	c.(172-174)Ctg>Gtg	p.L58V	CRHBP_ENST00000506501.1_Missense_Mutation_p.L58V	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	58					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CCGCCGCGCTCTGCGTGAGTC	0.706000													8	7					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829699	57829699	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:57829699C>A	ENST00000371030.2	+	5	4935	c.4935C>A	c.(4933-4935)tcC>tcA	p.S1645S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1645						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTCTAAATCCCTCAAGAAGA	0.443000													38	12					2.52637e-11	3.13439e-11	1	1	0
FBN2	2201	broad.mit.edu	37	5	127637190	127637190	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:127637190C>T	ENST00000508053.1	-	53	6904	c.5930G>A	c.(5929-5931)tGc>tAc	p.C1977Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C1977Y			P35556	FBN2_HUMAN	fibrillin 2	1977	EGF-like 33; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAAGGAACTGCACTCATCTAT	0.358000													30	59					0	0	1	0	0
RSU1P2	100133308	broad.mit.edu	37	10	45602185	45602185	+	RNA	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:45602185A>T	ENST00000423875.1	-	0	1251																											TGAGCTAAACAGAAGAAAACA	0.458000													8	14					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2945508	2945508	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:2945508C>A	ENST00000381130.2	+	7	1191	c.1191C>A	c.(1189-1191)tcC>tcA	p.S397S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	397						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGATCTTGTCCCAGGACAGGT	0.453000													29	21					4.3181e-19	6.08743e-19	1	1	0
STAM	8027	broad.mit.edu	37	10	17746452	17746452	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:17746452A>T	ENST00000377524.3	+	10	1150	c.935A>T	c.(934-936)cAg>cTg	p.Q312L	STAM_ENST00000540523.1_Missense_Mutation_p.Q201L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	312					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CAGTTGCTACAGATGCTGCAA	0.363000													38	142					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118354376	118354376	+	Splice_Site	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:118354376G>A	ENST00000528052.1	+	5	536	c.465_splice	c.e5+1	p.L155_splice	PNLIPRP1_ENST00000534537.1_Silent_p.L155L|PNLIPRP1_ENST00000358834.4_Splice_Site_p.L155_splice			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	155					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACATCCTCTTGGTGAGTCAGC	0.572000													9	20					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477614	25477614	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:25477614C>A	ENST00000453082.2	+	0	1700				SNORD115-34_ENST00000362441.1_RNA	NR_003343.1																						ACGCTGAGGCCCAGCCTAGGT	0.512000													85	240					1.04318e-46	1.80848e-46	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28307037	28307037	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr21:28307037C>A	ENST00000284987.5	-	4	1558	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	479					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGCCCAGGATCTGCTTTCGTG	0.517000													27	38					2.12542e-12	2.68383e-12	1	1	0
ANKRD13C	81573	broad.mit.edu	37	1	70742525	70742525	+	Silent	SNP	C	C	A	rs34209470	byFrequency	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:70742525C>A	ENST00000370944.4	-	10	1531	c.1218G>T	c.(1216-1218)ccG>ccT	p.P406P	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Silent_p.P371P	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	406					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GTCTTCGAATCGGCTGCCAAA	0.313000													21	34					1.96895e-08	2.31589e-08	1	1	0
MYO1C	4641	broad.mit.edu	37	17	1386344	1386344	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:1386344C>A	ENST00000359786.5	-	4	681	c.357G>T	c.(355-357)gtG>gtT	p.V119V	MYO1C_ENST00000361007.2_Silent_p.V84V|MYO1C_ENST00000545534.2_Silent_p.V95V|MYO1C_ENST00000438665.2_Silent_p.V100V|MYO1C_ENST00000575158.1_Silent_p.V84V	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	119	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGTGTCCGCCACGGCAAACC	0.672000													3	19					0.115264	0.116608	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141660563	141660563	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:141660563T>C	ENST00000389484.3	-	23	4663	c.3692A>G	c.(3691-3693)cAc>cGc	p.H1231R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1231					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTGTGCTTGTGCTGCTCACA	0.408000										TSP Lung(27;0.18)			57	61					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104523	184104523	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:184104523T>C	ENST00000204604.1	+	16	2422	c.2176T>C	c.(2176-2178)Tgc>Cgc	p.C726R	CHRD_ENST00000348986.3_Missense_Mutation_p.C686R|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.C726R|CHRD_ENST00000545352.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	726	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGACCCGCTCTGCTCACTCTG	0.677000													18	20					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133961005	133961005	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:133961005G>A	ENST00000361069.4	+	25	4258	c.4125G>A	c.(4123-4125)aaG>aaA	p.K1375K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1375	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACACGAGAAAGAAGACCAAGC	0.582000													22	53					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922346	24922346	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:24922346T>A	ENST00000329468.2	+	1	1806	c.1332T>A	c.(1330-1332)ctT>ctA	p.L444L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCCTCCACTTTCCACCACAC	0.517000													30	63					0	0	1	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179350368	179350368	+	Splice_Site	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179350368G>T	ENST00000234453.4	+	2	443	c.40_splice	c.e2-1	p.G14_splice	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	14	PH.					cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTCTTTTTAGGCTGGCAGCCT	0.368000													33	76					9.04072e-19	1.26311e-18	1	1	0
AFP	174	broad.mit.edu	37	4	74318261	74318261	+	Silent	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:74318261T>A	ENST00000395792.2	+	12	1672	c.1572T>A	c.(1570-1572)ccT>ccA	p.P524P	AFP_ENST00000226359.2_Silent_p.P524P	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	524	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGTCCCTCCTGCATTCTCTG	0.478000									Alpha-Fetoprotein, Hereditary Persistence of				49	7					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229953	140229953	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140229953G>T	ENST00000378122.3	+	1	2597	c.1873G>T	c.(1873-1875)Ggg>Tgg	p.G625W	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G625W|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCGCGTGGGGCTGTACAC	0.672000													31	74					1.61788e-16	2.18988e-16	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113402954	113402954	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:113402954G>T	ENST00000297405.5	-	36	6117	c.5873C>A	c.(5872-5874)cCt>cAt	p.P1958H	CSMD3_ENST00000343508.3_Missense_Mutation_p.P1918H|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1854H|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1888H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1958	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTGTCATAAGGCTCAGGGTA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			44	23					1.23713e-20	1.79591e-20	1	1	0
ACTL6B	51412	broad.mit.edu	37	7	100252640	100252640	+	Splice_Site	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:100252640A>T	ENST00000160382.5	-	4	476		c.e4+1			NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B						chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGAGGCACTCACCGGAGCCTC	0.592000													17	12					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158817623	158817623	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:158817623G>C	ENST00000368141.4	+	6	1354	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	365	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TGAGAAAGGAGATAAACTTCG	0.433000													44	251					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31676144	31676144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:31676144C>A	ENST00000357033.4	-	54	8196	c.7990G>T	c.(7990-7992)Gag>Tag	p.E2664*	DMD_ENST00000474231.1_Nonsense_Mutation_p.E204*|DMD_ENST00000378707.3_Nonsense_Mutation_p.E204*|DMD_ENST00000541735.1_Nonsense_Mutation_p.E204*|DMD_ENST00000359836.1_Nonsense_Mutation_p.E204*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2660*|DMD_ENST00000343523.2_Nonsense_Mutation_p.E204*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2664					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGATATTCTCTGTTATCATG	0.408000													17	13					9.7654e-05	0.000105415	1	1	0
TTC29	83894	broad.mit.edu	37	4	147860969	147860969	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:147860969T>A	ENST00000513335.1	-	4	356	c.157A>T	c.(157-159)Aga>Tga	p.R53*	TTC29_ENST00000398886.4_Nonsense_Mutation_p.R53*|TTC29_ENST00000325106.4_Nonsense_Mutation_p.R27*|RP11-292D4.2_ENST00000515530.1_RNA			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	27							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGAATTTTTCTGGAGGAGCAA	0.418000													21	6					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068614	103068614	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:103068614G>T	ENST00000264260.2	+	12	2362	c.1773G>T	c.(1771-1773)ggG>ggT	p.G591G	IL18RAP_ENST00000409369.1_Silent_p.G449G	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	591					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAACCACTGGGAGGAGCTCCC	0.512000													47	175					1.02687e-29	1.63503e-29	1	1	0
CD7	924	broad.mit.edu	37	17	80274703	80274703	+	Silent	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:80274703A>C	ENST00000584284.1	-	2	318	c.237T>G	c.(235-237)acT>acG	p.T79T	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000583376.1_5'UTR|CD7_ENST00000312648.3_Silent_p.T79T			P09564	CD7_HUMAN	CD7 molecule	79	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GTCTGTCCGTAGTGGGCACCA	0.632000													33	116					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284887	125284887	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:125284887C>A	ENST00000431078.1	+	10	1864	c.1500C>A	c.(1498-1500)tcC>tcA	p.S500S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	500	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S500S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCACCGATTCCCAATGTTTAA	0.463000													29	27					2.12542e-12	2.68383e-12	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15936734	15936734	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:15936734G>T	ENST00000504595.1	+	4	1396	c.915G>T	c.(913-915)ctG>ctT	p.L305L	FBXL7_ENST00000510662.1_Silent_p.L258L|FBXL7_ENST00000329673.7_Silent_p.L293L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	305					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCTCTACCTGCGCCGCTGCG	0.647000													31	25					2.49675e-24	3.7937e-24	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3248710	3248710	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:3248710G>C	ENST00000217939.6	-	3	447	c.293C>G	c.(292-294)gCt>gGt	p.A98G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	98						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCTCTTAAAGCTCCATCGGG	0.433000													27	12					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366740	69366740	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:69366740C>A	ENST00000433211.1	-	3	341	c.167G>T	c.(166-168)aGt>aTt	p.S56I	CTNNA3_ENST00000545309.1_Missense_Mutation_p.S56I|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S56I	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	56					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TAGAAGGACACTGGCTCTTTT	0.418000													57	42					6.60958e-23	9.89853e-23	1	1	0
SUPT16H	11198	broad.mit.edu	37	14	21831308	21831308	+	Splice_Site	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr14:21831308T>A	ENST00000216297.2	-	13	1734	c.1395_splice	c.e13-1	p.N466_splice		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	466					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GTCATTTCATTCTGGTGAATG	0.388000													34	86					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914994	46914994	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:46914994G>A	ENST00000307522.3	-	1	1847	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	358						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGGTTATCTGCAG	0.587000													7	374					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035968	36035968	+	Silent	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:36035968C>T	ENST00000282507.3	-	7	1505	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	UGT3A2_ENST00000513300.1_Silent_p.A434A|UGT3A2_ENST00000545528.1_Silent_p.A166A	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	468						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGTGCGTCGCGCCCCCTG	0.637000													29	34					0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776064	144776064	+	Silent	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:144776064G>T	ENST00000532205.1	+	8	1379	c.480G>T	c.(478-480)cgG>cgT	p.R160R	ZNF707_ENST00000532158.1_Silent_p.R160R|ZNF707_ENST00000418203.2_Silent_p.R160R|ZNF707_ENST00000358656.4_Silent_p.R160R|ZNF707_ENST00000454097.1_Silent_p.R160R			Q96C28	ZN707_HUMAN	zinc finger protein 707	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTGGGCGGCGGCCGGGCCGCA	0.677000													9	33					2.74318e-10	3.34231e-10	1	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515126	140515126	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:140515126A>T	ENST00000231134.5	+	1	327	c.110A>T	c.(109-111)gAa>gTa	p.E37V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		37	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCATACCAGAAGAAACAGAA	0.507000													34	53					0	0	1	0	0
FIRRE	286467	broad.mit.edu	37	X	130929911	130929911	+	RNA	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:130929911G>C	ENST00000427391.1	-	0	1010					NR_026975.1																						GTCCCCTGGAGGGATGGGGAC	0.657000													4	1					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165532811	165532811	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:165532811C>A	ENST00000294818.1	+	2	982	c.692C>A	c.(691-693)cCa>cAa	p.P231Q	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	231	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GTGGGGAACCCACTCCGATAC	0.567000													16	60					3.45872e-05	3.77271e-05	1	1	0
BAI2	576	broad.mit.edu	37	1	32207657	32207657	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:32207657G>A	ENST00000373658.3	-	8	1755	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S	BAI2_ENST00000398542.1_Missense_Mutation_p.P405S|BAI2_ENST00000257070.4_Missense_Mutation_p.P472S|BAI2_ENST00000398556.3_Missense_Mutation_p.P420S|BAI2_ENST00000373655.2_Missense_Mutation_p.P472S|BAI2_ENST00000398547.1_Missense_Mutation_p.P405S|BAI2_ENST00000398538.1_Missense_Mutation_p.P460S|BAI2_ENST00000440175.2_Missense_Mutation_p.P114S|BAI2_ENST00000527361.1_Missense_Mutation_p.P472S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	472	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CACTCACCCGGGCACTCGAGG	0.652000													27	68					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81610746	81610746	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr12:81610746A>C	ENST00000548058.1	+	10	2331	c.1421A>C	c.(1420-1422)cAa>cCa	p.Q474P	ACSS3_ENST00000261206.3_Missense_Mutation_p.Q473P|ACSS3_ENST00000548324.1_Missense_Mutation_p.Q156P			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	474						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCACCAGGGCAAGCAGGAAAA	0.378000													33	13					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865925	139865925	+	Missense_Mutation	SNP	A	A	T	rs148670935	byFrequency	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:139865925A>T	ENST00000370532.2	-	1	798	c.607T>A	c.(607-609)Tgg>Agg	p.W203R		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	203	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGGTCTTCCAGCCAATATAT	0.443000													80	45					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466427	220466427	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:220466427G>T	ENST00000456909.1	+	4	422	c.332G>T	c.(331-333)cGg>cTg	p.R111L	STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Missense_Mutation_p.R122L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	122					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAATCCCTTCGGCACCTGGAG	0.532000													7	1					0.000157383	0.000169073	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117308100	117308100	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:117308100G>C	ENST00000321322.6	-	26	4639	c.4638C>G	c.(4636-4638)caC>caG	p.H1546Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.H1276Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1486	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGTGAAGAGGTGTTGGTCTT	0.592000													33	128					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38499618	38499618	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:38499618C>A	ENST00000263409.4	-	12	1830	c.1668G>T	c.(1666-1668)tgG>tgT	p.W556C	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.W556C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	556	Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TATTTACCTTCCAATAGATTA	0.348000			T	PLAG1	salivary adenoma								34	29					9.8876e-21	1.43937e-20	1	1	0
ZNF500	26048	broad.mit.edu	37	16	4815851	4815851	+	Silent	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:4815851G>A	ENST00000219478.6	-	2	428	c.129C>T	c.(127-129)gaC>gaT	p.D43D	ZNF500_ENST00000545009.1_Silent_p.D43D			O60304	ZN500_HUMAN	zinc finger protein 500	43					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CAGGGCTGGGGTCCTCCGTCT	0.637000													18	40					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171337	150171337	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:150171337C>T	ENST00000307271.3	+	4	1494	c.920C>T	c.(919-921)tCa>tTa	p.S307L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	307						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCGGACATCTCATCTTTAAAG	0.448000													40	41					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170071	20170071	+	RNA	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:20170071C>A	ENST00000338912.5	-	0	200																											ACACCAATCCCATCCACTCAA	0.562000													22	57					2.39556e-15	3.19e-15	1	1	0
LCE2C	353140	broad.mit.edu	37	1	152648768	152648768	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:152648768G>C	ENST00000368783.1	+	2	332	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	93	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGACTGCTGTGAGAGTGAACC	0.662000													127	115					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156474	111156474	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr11:111156474C>A	ENST00000280325.4	+	4	553	c.406C>A	c.(406-408)Ctc>Atc	p.L136I		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	136										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CACGAGTTGCCTCTCCCAGCT	0.632000													131	21					2.02578e-71	3.63292e-71	1	1	0
XDH	7498	broad.mit.edu	37	2	31628799	31628799	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:31628799G>T	ENST00000379416.3	-	2	122	c.74C>A	c.(73-75)aCc>aAc	p.T25N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	25	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGCCAAAAGGGTTGTCTCTGG	0.393000													13	112					2.32078e-09	2.78423e-09	1	1	0
CXCL14	9547	broad.mit.edu	37	5	134914177	134914177	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:134914177C>A	ENST00000337225.5	-	2	617	c.153G>T	c.(151-153)gtG>gtT	p.V51V	CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Silent_p.V39V	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	51					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity	p.V51V(1)		large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGCTTCTTCACGTCGCTGT	0.592000													28	59					2.46105e-21	3.61294e-21	1	1	0
GOLGA8EP	390535	broad.mit.edu	37	15	23445484	23445484	+	RNA	SNP	T	T	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr15:23445484T>A	ENST00000526079.1	+	0	2304					NR_027407.1|NR_033350.1																						GTCAAAGACCTGCTCAAGAAA	0.413000													23	98					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35917321	35917321	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:35917321C>A	ENST00000325722.3	-	13	2204	c.1970G>T	c.(1969-1971)gGg>gTg	p.G657V	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.G94V|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	657	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACTTGCAGCCCAGTCACAGT	0.493000											OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	107	94					8.05857e-52	1.408e-51	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187694608	187694608	+	Splice_Site	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:187694608C>A	ENST00000295131.2	-	8	981		c.e8-1			NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2						apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTAAACTTGGCTGAATGAGAA	0.373000													34	50					8.73648e-17	1.18767e-16	1	1	0
ASMT	438	broad.mit.edu	37	X	1752060	1752060	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:1752060G>T	ENST00000381241.3	+	7	863	c.664G>T	c.(664-666)Gct>Tct	p.A222S	RP13-297E16.3_ENST00000509780.1_RNA|ASMT_ENST00000381233.3_Intron|ASMT_ENST00000381229.4_Missense_Mutation_p.A194S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	194					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGAGCTCTGGCTAAGGAATG	0.537000													80	49					3.14276e-30	5.04004e-30	1	1	0
BCRP7	100133163	broad.mit.edu	37	22	18846045	18846045	+	RNA	SNP	G	G	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:18846045G>A	ENST00000412938.1	+	0	3403																											GTGCCTGGATGTCTGCGGCCA	0.637000													12	93					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148346	70148346	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:70148346C>T	ENST00000374299.3	-	4	811	c.667G>A	c.(667-669)Gac>Aac	p.D223N	SLC7A3_ENST00000298085.4_Missense_Mutation_p.D223N			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	223					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AATTCGTAGTCCTCTTCTGTG	0.493000													5	4					0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135077242	135077242	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:135077242C>A	ENST00000445355.3	-	22	2397	c.2347G>T	c.(2347-2349)Gtg>Ttg	p.V783L	ADAM8_ENST00000485491.2_Intron|ADAM8_ENST00000415217.3_Missense_Mutation_p.S727I	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	708					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ACTGGGGGCACTGGGGGTGCG	0.637000													9	6					3.86212e-05	4.19807e-05	1	1	0
ZNF513	130557	broad.mit.edu	37	2	27601659	27601659	+	Silent	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:27601659C>A	ENST00000323703.6	-	3	672	c.474G>T	c.(472-474)gtG>gtT	p.V158V	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Silent_p.V96V	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	158					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTAGTGGGACACGAAGGTGC	0.687000													9	41					0.00448238	0.00465215	1	1	0
PLSCR4	57088	broad.mit.edu	37	3	145924492	145924492	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr3:145924492C>A	ENST00000354952.2	-	4	415	c.175G>T	c.(175-177)Gga>Tga	p.G59*	PLSCR4_ENST00000383083.2_Nonsense_Mutation_p.G59*|PLSCR4_ENST00000433593.2_Nonsense_Mutation_p.G44*|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.G59*|PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.G59*	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	59					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CTGTAGTATCCCATAGGCAAG	0.478000													6	8					3.59834e-05	3.9168e-05	1	1	0
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	T	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:700532delT	ENST00000428504.1	-	0	1021					NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453													3	3	---	---	---	---					
HIST2H2BB	338391	broad.mit.edu	37	1	149375111	149375111	+	RNA	DEL	G	G	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:149375111delG	ENST00000415338.1	-	0	1061																											CTATCGAAATGGCAAAGCCTT	0.468													24	150	---	---	---	---					
GLUL	2752	broad.mit.edu	37	1	182354607	182354608	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:182354607_182354608delCA	ENST00000311223.5	-	7	1583_1584	c.687_688delTG	c.(685-690)tgaafs	p.CE229fs	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Frame_Shift_Del_p.CE229fs|GLUL_ENST00000339526.4_Frame_Shift_Del_p.CE229fs|GLUL_ENST00000331872.6_Frame_Shift_Del_p.CE229fs	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	229					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	CCAAAGTCTTCACACACACGAT	0.500													52	21	---	---	---	---					
SERTAD4	56256	broad.mit.edu	37	1	210415654	210415655	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:210415654_210415655delTG	ENST00000367012.3	+	4	1273_1274	c.1043_1044delTG	c.(1042-1044)cfs	p.L348fs		NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	348							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		AGTAACAAACTGTGCTGCAGCA	0.366													13	55	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232619623	232619623	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr1:232619623delT	ENST00000366630.1	-	5	2254	c.1896delA	c.(1894-1896)ccfs	p.P632fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Del_p.P632fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	632	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTCAAAAGCTGGTCCCGCCG	0.443													43	47	---	---	---	---					
TPO	7173	broad.mit.edu	37	2	1546306	1546306	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:1546306delT	ENST00000337415.3	+	16	2823	c.2732delT	c.(2731-2733)ctfs	p.L911fs	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_3'UTR|TPO_ENST00000349624.3_3'UTR|TPO_ENST00000346956.3_3'UTR|TPO_ENST00000345913.4_3'UTR|TPO_ENST00000329066.4_3'UTR			P07202	PERT_HUMAN	thyroid peroxidase	0					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGTACGACTCTTTTCCAAACA	0.502													7	16	---	---	---	---					
LRRTM4	80059	broad.mit.edu	37	2	77748825	77748826	+	Translation_Start_Site	INS	-	-	AT			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:77748825_77748826insAT	ENST00000409088.3	-	0	386_387				LRRTM4_ENST00000409884.1_De_novo_Start_OutOfFrame|LRRTM4_ENST00000409282.1_Intron|LRRTM4_ENST00000409093.1_De_novo_Start_OutOfFrame|LRRTM4_ENST00000409911.1_Intron	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4							integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CGTTTCCCCCCTCTCTCAGCTT	0.485													63	221	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89103807	89103807	+	RNA	DEL	T	T	-	rs67046863		TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:89103807delT	ENST00000393525.3	+	0	4281																											GTCTAAAATATTTTATATata	0.249													2	4	---	---	---	---					
MAP4K4	9448	broad.mit.edu	37	2	102441838	102441838	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:102441838delG	ENST00000413150.2	+	5	419	c.364delG	c.(364-366)ggfs	p.G122fs	MAP4K4_ENST00000425019.1_Frame_Shift_Del_p.G122fs|MAP4K4_ENST00000350198.4_Frame_Shift_Del_p.G122fs|MAP4K4_ENST00000350878.4_Frame_Shift_Del_p.G102fs|MAP4K4_ENST00000302217.5_Frame_Shift_Del_p.G122fs|MAP4K4_ENST00000324219.4_Frame_Shift_Del_p.G122fs|MAP4K4_ENST00000456652.1_Frame_Shift_Del_p.G122fs|MAP4K4_ENST00000347699.4_Frame_Shift_Del_p.G122fs	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	122	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAACACCAAAGGGAACACACT	0.483													14	52	---	---	---	---					
GPR17	2840	broad.mit.edu	37	2	128409221	128409221	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:128409221delC	ENST00000544369.1	+	4	1607	c.996delC	c.(994-996)ttfs	p.F332fs	GPR17_ENST00000272644.3_Frame_Shift_Del_p.F332fs|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Frame_Shift_Del_p.F332fs|GPR17_ENST00000486700.1_3'UTR	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	332						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CTGAGAAGTTCCGCCACGCCC	0.612													50	109	---	---	---	---					
SCN7A	6332	broad.mit.edu	37	2	167288989	167288989	+	Frame_Shift_Del	DEL	T	T	-	rs146072866	by1000genomes	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:167288989delT	ENST00000409855.1	-	15	2557	c.2431delA	c.(2431-2433)gcfs	p.S812fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	812					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTGCCACTGCTTTTTTCCTTA	0.388													90	282	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179615757	179615757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr2:179615757delG	ENST00000360870.5	-	46	11592	c.11370delC	c.(11368-11370)ccfs	p.P3790fs	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9627							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAAGCTTGTGGGAAGTTCCT	0.353													95	150	---	---	---	---					
SFRP2	6423	broad.mit.edu	37	4	154702729	154702730	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr4:154702729_154702730insT	ENST00000274063.4	-	3	1045_1046	c.761_762insA	c.(760-762)agcfs	p.S254fs		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	254	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GATAGGGCGCGTTGATGTCGTT	0.554													68	21	---	---	---	---					
GABRG2	2566	broad.mit.edu	37	5	161576295	161576295	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr5:161576295delC	ENST00000356592.3	+	8	1564	c.1104delC	c.(1102-1104)gafs	p.D368fs	GABRG2_ENST00000361925.4_Frame_Shift_Del_p.D368fs|GABRG2_ENST00000393933.4_Frame_Shift_Del_p.D273fs|GABRG2_ENST00000414552.2_Frame_Shift_Del_p.D408fs	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	368					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CAAGCAAGGACAAAGATAAAA	0.368													12	30	---	---	---	---					
OR2W1	26692	broad.mit.edu	37	6	29012154	29012154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:29012154delA	ENST00000377175.1	-	1	863	c.799delT	c.(799-801)ccfs	p.S267fs		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGGTCTTTGGAAGCCCTGTTA	0.443													48	59	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	2136	---	---	---	---					
IFNGR1	3459	broad.mit.edu	37	6	137519309	137519309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr6:137519309delT	ENST00000367739.4	-	7	1450	c.1329delA	c.(1327-1329)cafs	p.Q443fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.Q415fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	443					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TTATGAGCTCTTGTCCTTCTG	0.403													56	16	---	---	---	---					
TRBV5-7	28608	broad.mit.edu	37	7	142111570	142111571	+	RNA	INS	-	-	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:142111570_142111571insT	ENST00000390378.1	-	0	164_165																											CCCAGGGCCTGTTGGTACGAGG	0.515													30	102	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149524894	149524894	+	RNA	DEL	G	G	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr7:149524894delG	ENST00000378016.2	+	0	14805							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGTGGCCCCGGGGGAGCTGG	0.647													10	40	---	---	---	---					
DCSTAMP	81501	broad.mit.edu	37	8	105361372	105361372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:105361372delT	ENST00000297581.2	+	2	641	c.592delT	c.(592-594)acfs	p.Y198fs	DCSTAMP_ENST00000517991.1_Frame_Shift_Del_p.Y198fs|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	198					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GAGCGTCTTGTACCAGATGGC	0.542													37	148	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113318402	113318403	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr8:113318402_113318403insT	ENST00000297405.5	-	51	8148_8149	c.7904_7905insA	c.(7903-7905)caafs	p.Q2635fs	CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.Q2565fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.Q2531fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.Q2595fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2635	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGAGCTTTAGGAATCCCACA	0.342										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	50	---	---	---	---					
CELP	1057	broad.mit.edu	37	9	135962137	135962138	+	RNA	INS	-	-	C			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:135962137_135962138insC	ENST00000411440.2	+	0	679					NR_001275.2																						CCCCTGGGAGTCCCCAGCCCCT	0.658													4	3	---	---	---	---					
ABCA2	20	broad.mit.edu	37	9	139903500	139903500	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr9:139903500delC	ENST00000265662.5	-	46	6980	c.6833delG	c.(6832-6834)gafs	p.G2278fs	ABCA2_ENST00000341511.6_Frame_Shift_Del_p.G2278fs|ABCA2_ENST00000371605.3_Frame_Shift_Del_p.G2277fs			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2277	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTAGCCATCTCCAAACCTGGT	0.667													28	7	---	---	---	---					
IFIT5	24138	broad.mit.edu	37	10	91177836	91177836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr10:91177836delA	ENST00000371795.4	+	2	1093	c.880delA	c.(880-882)ggfs	p.R294fs	IFIT5_ENST00000416601.1_Frame_Shift_Del_p.R246fs	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	294							binding			endometrium(1)|large_intestine(4)|lung(4)	9						ACTTTGCTACAGGGCACAAAT	0.403													46	134	---	---	---	---					
PCDH9	5101	broad.mit.edu	37	13	66878855	66878855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr13:66878855delG	ENST00000544246.1	-	5	4337	c.3646delC	c.(3646-3648)tgfs	p.L1216fs	PCDH9_ENST00000456367.1_Frame_Shift_Del_p.L1182fs|PCDH9_ENST00000328454.5_Frame_Shift_Del_p.L1182fs|PCDH9_ENST00000377865.2_Frame_Shift_Del_p.L1216fs|PCDH9-AS1_ENST00000430861.1_RNA	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1216					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGATTTGCCAGAGGAATGTCT	0.443													25	38	---	---	---	---					
CACNA1H	8912	broad.mit.edu	37	16	1250565	1250565	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr16:1250565delC	ENST00000348261.5	+	7	1361	c.1113delC	c.(1111-1113)atfs	p.I371fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.I371fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.I371fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	371					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGATTGCCATCTTCCAGGTGG	0.662													29	42	---	---	---	---					
SMG6	23293	broad.mit.edu	37	17	2202476	2202476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:2202476delC	ENST00000544865.1	-	2	1988	c.1478delG	c.(1477-1479)gcfs	p.G493fs	SMG6_ENST00000263073.5_Frame_Shift_Del_p.G524fs			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	524	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGGTTATAGCCCGTATAGGG	0.542													114	275	---	---	---	---					
SHMT1	6470	broad.mit.edu	37	17	18251744	18251754	+	Splice_Site	DEL	CGCCATAGTAT	CGCCATAGTAT	-	rs143078306	by1000genomes	TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:18251744_18251754delCGCCATAGTAT	ENST00000316694.3	-	4	377_387	c.242_splice	c.e4-1	p.RYYGG81_splice	SHMT1_ENST00000354098.3_Splice_Site_p.RYYGG81_splice|SHMT1_ENST00000352886.6_Splice_Site_p.RYYGG81_splice|SHMT1_ENST00000539052.1_Intron	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	81					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AACTCAGTCCCGCCATAGTATCTGTGGGAGA	0.531													13	49	---	---	---	---					
SLC39A11	201266	broad.mit.edu	37	17	70645080	70645081	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr17:70645080_70645081insT	ENST00000542342.2	-	9	899_900	c.811_812insA	c.(811-813)ggtfs	p.G271fs	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Frame_Shift_Ins_p.G264fs	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	271					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GGGCTCCACCATGCCGCTCAGC	0.624													9	12	---	---	---	---					
HNRNPUL1	11100	broad.mit.edu	37	19	41811694	41811695	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:41811694_41811695insA	ENST00000392006.3	+	14	2549_2550	c.2376_2377insA	c.(2374-2379)taacccfs	p.P793fs	HNRNPUL1_ENST00000602130.1_Intron|HNRNPUL1_ENST00000593587.1_Frame_Shift_Ins_p.P693fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Ins_p.P689fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Ins_p.P703fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Ins_p.P704fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Ins_p.P693fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	793	Necessary for interaction with TP53.|Pro-rich.|Tyr-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						ACGGCGGTTACAACCCGGCCCC	0.629													7	137	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47424611	47424611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr19:47424611delA	ENST00000404338.3	+	1	2679	c.2679delA	c.(2677-2679)gtfs	p.V893fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	893					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										ATGGCGCTGTAGATGTCCTGG	0.478													110	17	---	---	---	---					
L3MBTL1	26013	broad.mit.edu	37	20	42143689	42143689	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr20:42143689delC	ENST00000444063.1	+	2	405	c.273delC	c.(271-273)gafs	p.D91fs	L3MBTL1_ENST00000427442.2_Frame_Shift_Del_p.D159fs|L3MBTL1_ENST00000373134.1_Frame_Shift_Del_p.D91fs|L3MBTL1_ENST00000373135.3_Frame_Shift_Del_p.D91fs|L3MBTL1_ENST00000418998.1_Frame_Shift_Del_p.D159fs|L3MBTL1_ENST00000457824.1_3'UTR			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	91					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCAATCAGGACCCCCCAGAGG	0.637													36	11	---	---	---	---					
XBP1	7494	broad.mit.edu	37	22	29196498	29196499	+	In_Frame_Ins	INS	-	-	GCC			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chr22:29196498_29196499insGCC	ENST00000216037.6	-	1	86_87	c.14_15insGGC	c.(13-15)ggc>gGGCgc	p.5_6insR	XBP1_ENST00000344347.5_In_Frame_Ins_p.5_6insR|XBP1_ENST00000403532.3_In_Frame_Ins_p.5_6insR	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	5					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TCGGCGCGGCTGCCACCACCAC	0.762													4	6	---	---	---	---					
MIR513B	100313822	broad.mit.edu	37	X	146280624	146280624	+	RNA	DEL	C	C	-			TCGA-78-8662-01A-11D-2393-08	TCGA-78-8662-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a18e06-a219-42fb-934d-05dab59924d2	9ba38ffb-4d0d-46f6-ac56-8eeb499610cc	g.chrX:146280624delC	ENST00000385136.2	-	0	21					NR_031708.1																						aatgacacctccttgtgaaag	0.418													11	2	---	---	---	---